Rahman syndrome is a genetic syndrome that includes mild to severe intellectual disability and an increase in height, weight, or head size (overgrowth). ... Only one copy of the HIST1H1E gene needs to have a disease-causing genetic change to have Rahman syndrome, which is consistent with an autosomal dominant condition. However, most of the reported cases of Rahman syndrome have not been inherited from the parents, but have been caused by a genetic change that happens by mistake during the making of the egg or sperm (de novo). Rahman syndrome may be suspected by symptoms, but the diagnosis is confirmed by genetic testing. Rahman syndrome is one of a group of disorders that have been associated with overgrowth and intellectual disability.
A number sign (#) is used with this entry because of evidence that Rahman syndrome (RMNS) is caused by heterozygous mutation in the HIST1H1E gene (142220) on chromosome 6p22. Description Rahman syndrome is characterized by mild to severe intellectual disability associated with variable somatic overgrowth manifest as increased birth length, height, weight, and/or head circumference. ... Molecular Genetics In 5 unrelated patients with Rahman syndrome, Tatton-Brown et al. (2017) identified 3 different heterozygous truncating mutations in the HIST1H1E gene (142220.0001-142220.0003).
Tall stature is not a common finding, in contrast to the authors' initial reports suggesting HIST1H1E syndrome was an overgrowth-intellectual disability syndrome [Tatton-Brown et al 2017]. ... Penetrance Data are currently insufficient to determine the penetrance of H1-4 germline pathogenic variants Nomenclature HIST1H1E neurodevelopmental syndrome (HNDS) has been proposed as an alternative name for HIST1H1E syndrome. Prevalence HIST1H1E syndrome was only recently described; data to date are insufficient to estimate prevalence. ... See OMIM Phenotypic Series: Autosomal dominant ID; Autosomal recessive ID; Nonsyndromic X-linked ID; and Syndromic X-linked ID. While it has previously been suggested that HIST1H1E syndrome belongs to the family of overgrowth-intellectual disability syndromes [Tatton-Brown et al 2014], recent data suggest that most children with HIST1H1E syndrome do not have tall stature or macrocephaly [Burkardt et al 2019]. ... Management No clinical practice guidelines for HIST1H1E syndrome have been published.
Overview Myelodysplastic syndromes are a group of disorders caused by blood cells that are poorly formed or don't work properly. ... Symptoms People with myelodysplastic syndromes might not experience signs and symptoms at first. ... Types of myelodysplastic syndromes The World Health Organization divides myelodysplastic syndromes into subtypes based on the type of blood cells — red cells, white cells and platelets — involved. Myelodysplastic syndrome subtypes include: Myelodysplastic syndromes with single-lineage dysplasia. ... Chemicals, including benzene, have been linked to myelodysplastic syndromes. Complications Complications of myelodysplastic syndromes include: Anemia.
A number sign (#) is used with this entry because myelodysplastic syndrome (MDS) can be caused by somatic mutation in several genes, including TET2 (612839) on chromosome 4q24, SF3B1 (605590) on 2q33, ASXL1 (612990) on 20q11, and GNB1 (139380) on 1p36. A predisposition to myelodysplastic syndrome and acute myeloid leukemia (601626) can be caused by heterozygous germline mutation in the GATA2 gene (137295) on chromosome 3q21, the TERC gene (602322) on 3q, and the TERT gene (187270) on 5p. See also chromosome 5q deletion syndrome (153550) and monosomy 7 (252270), which are characterized by myelodysplasia. Description Myelodysplastic syndrome (MDS) is a heterogeneous group of clonal hematologic stem cell disorders characterized by ineffective hematopoiesis resulting in low blood counts, most commonly anemia, and a risk of progression to acute myeloid leukemia (AML; 601626). ... Somatic Mutations Using whole-exome sequencing, Papaemmanuil et al. (2011) identified 64 different somatic mutations in various genes in bone marrow cells of 9 patients with low-grade myelodysplastic syndromes, 8 of whom had refractory anemia with ringed sideroblasts.
Diverse collection of blood-related cancers that involve ineffective production of certain blood cells Myelodysplastic syndrome Other names Preleukemia, myelodysplasia [1] [2] Blood smear from a person with myelodysplastic syndrome. ... Chronic myelomonocytic leukemia (CMML) CMML was removed from the myelodysplastic syndromes and put in a new category of myelodysplastic-myeloproliferative overlap syndromes. ... Archived from the original on 2016-10-27. ^ Myelodysplastic Syndrome. The Leukemia & Lymphoma Society. ... PMID 17021321 . ^ "FDA Approves New Therapy for Myelodysplastic Syndromes (MDS) That Can Be Taken at Home" . ... External links [ edit ] Wikimedia Commons has media related to Myelodysplastic syndrome . Myelodysplastic syndrome at Curlie Fenaux, P., et al. (2014). [1] Myelodysplastic syndromes: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up.
As the child matures, the color may deepen to a dark red or purplish color. [2] In adulthood, thickening of the lesion or the development of small lumps may occur. [2] [5] Port-wine stains may be part of a syndrome such as Sturge–Weber syndrome or Klippel–Trénaunay–Weber syndrome . [2] Contents 1 Types 2 Genetics 3 Diagnosis 4 Treatment 5 Prognosis 6 Epidemiology 7 References Types [ edit ] Mikhail Gorbachev , last leader of the Soviet Union , with a prominent port-wine stain on his forehead Nevus flammeus may be divided as follows: [6] Nevus flammeus nuchae Midline nevus flammeus Genetics [ edit ] Port-wine stains were shown to be caused by a somatic activating c.548G→A mutation in the GNAQ gene. [7] An association with RASA1 has also been described. [8] Diagnosis [ edit ] A healthcare provider can usually diagnose a port-wine stain based entirely upon the history and appearance. ... An MRI of the brain may be performed (under anesthesia) on infants who have a port-wine stain in the head area in order to check for signs of Sturge-Weber syndrome . [2] If the port-wine stain is inside the mouth, a provider may check the insides of a newborn baby's throat with a scope to see if there are any changes (growths) other than just the color. ... ISBN 0-7216-2921-0 . ^ Shirley, Matthew D.; Tang, Hao; Gallione, Carol J.; Baugher, Joseph D.; Frelin, Laurence P.; Cohen, Bernard; North, Paula E.; Marchuk, Douglas A.; Comi, Anne M.; Pevsner, Jonathan (8 May 2013). "Sturge–Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in" . ... Topical rapamycin combined with pulsed dye laser in the treatment of capillary vascular malformations in Sturge-Weber syndrome: phase II, randomized double-blind, intraindividual placebo controlled trial. ... Thaj Laser Skin-Hair Clinic , 2 April 2014 Classification D ICD - 10 : Q82.5 ( ILDS Q82.510) ICD - 9-CM : 757.32 OMIM : 163000 MeSH : D019339 DiseasesDB : 10384 External resources MedlinePlus : 001475 eMedicine : derm/295 v t e Congenital malformations and deformations of integument / skin disease Genodermatosis Congenital ichthyosis / erythrokeratodermia AD Ichthyosis vulgaris AR Congenital ichthyosiform erythroderma : Epidermolytic hyperkeratosis Lamellar ichthyosis Harlequin-type ichthyosis Netherton syndrome Zunich–Kaye syndrome Sjögren–Larsson syndrome XR X-linked ichthyosis Ungrouped Ichthyosis bullosa of Siemens Ichthyosis follicularis Ichthyosis prematurity syndrome Ichthyosis–sclerosing cholangitis syndrome Nonbullous congenital ichthyosiform erythroderma Ichthyosis linearis circumflexa Ichthyosis hystrix EB and related EBS EBS-K EBS-WC EBS-DM EBS-OG EBS-MD EBS-MP JEB JEB-H Mitis Generalized atrophic JEB-PA DEB DDEB RDEB related: Costello syndrome Kindler syndrome Laryngoonychocutaneous syndrome Skin fragility syndrome Ectodermal dysplasia Naegeli syndrome / Dermatopathia pigmentosa reticularis Hay–Wells syndrome Hypohidrotic ectodermal dysplasia Focal dermal hypoplasia Ellis–van Creveld syndrome Rapp–Hodgkin syndrome / Hay–Wells syndrome Elastic / Connective Ehlers–Danlos syndromes Cutis laxa ( Gerodermia osteodysplastica ) Popliteal pterygium syndrome Pseudoxanthoma elasticum Van der Woude syndrome Hyperkeratosis / keratinopathy PPK diffuse : Diffuse epidermolytic palmoplantar keratoderma Diffuse nonepidermolytic palmoplantar keratoderma Palmoplantar keratoderma of Sybert Meleda disease syndromic connexin Bart–Pumphrey syndrome Clouston's hidrotic ectodermal dysplasia Vohwinkel syndrome Corneodermatoosseous syndrome plakoglobin Naxos syndrome Scleroatrophic syndrome of Huriez Olmsted syndrome Cathepsin C Papillon–Lefèvre syndrome Haim–Munk syndrome Camisa disease focal : Focal palmoplantar keratoderma with oral mucosal hyperkeratosis Focal palmoplantar and gingival keratosis Howel–Evans syndrome Pachyonychia congenita Pachyonychia congenita type I Pachyonychia congenita type II Striate palmoplantar keratoderma Tyrosinemia type II punctate : Acrokeratoelastoidosis of Costa Focal acral hyperkeratosis Keratosis punctata palmaris et plantaris Keratosis punctata of the palmar creases Schöpf–Schulz–Passarge syndrome Porokeratosis plantaris discreta Spiny keratoderma ungrouped: Palmoplantar keratoderma and spastic paraplegia desmoplakin Carvajal syndrome connexin Erythrokeratodermia variabilis HID / KID Other Meleda disease Keratosis pilaris ATP2A2 Darier's disease Dyskeratosis congenita Lelis syndrome Dyskeratosis congenita Keratolytic winter erythema Keratosis follicularis spinulosa decalvans Keratosis linearis with ichthyosis congenita and sclerosing keratoderma syndrome Keratosis pilaris atrophicans faciei Keratosis pilaris Other cadherin EEM syndrome immune system Hereditary lymphedema Mastocytosis / Urticaria pigmentosa Hailey–Hailey see also Template:Congenital malformations and deformations of skin appendages , Template:Phakomatoses , Template:Pigmentation disorders , Template:DNA replication and repair-deficiency disorder Developmental anomalies Midline Dermoid cyst Encephalocele Nasal glioma PHACE association Sinus pericranii Nevus Capillary hemangioma Port-wine stain Nevus flammeus nuchae Other/ungrouped Aplasia cutis congenita Amniotic band syndrome Branchial cyst Cavernous venous malformation Accessory nail of the fifth toe Bronchogenic cyst Congenital cartilaginous rest of the neck Congenital hypertrophy of the lateral fold of the hallux Congenital lip pit Congenital malformations of the dermatoglyphs Congenital preauricular fistula Congenital smooth muscle hamartoma Cystic lymphatic malformation Median raphe cyst Melanotic neuroectodermal tumor of infancy Mongolian spot Nasolacrimal duct cyst Omphalomesenteric duct cyst Poland anomaly Rapidly involuting congenital hemangioma Rosenthal–Kloepfer syndrome Skin dimple Superficial lymphatic malformation Thyroglossal duct cyst Verrucous vascular malformation Birthmark
A number sign (#) is used with this entry because of evidence that congenital capillary malformations can be caused by somatic mosaic mutation in the GNAQ gene (600998) on chromosome 9q21. Sturge-Weber syndrome (185300), which includes port-wine stains, is also caused by somatic mosaic mutation in the GNAQ gene. ... He had no symptoms indicative of Klippel-Trenaunay syndrome (149000). Of 60 subjects with inherited capillary malformation from 13 families studied by Eerola et al. (2002), 19 had a lesion on the face, 15 in the nuchal region, and 26 in other parts of the body. ... The lesion extended to the left chin and anterior neck. Sturge-Weber syndrome was ruled out by pertinent studies. ... In 6 of these families, manifesting an association of atypical capillary malformations with arteriovenous malformation, arteriovenous fistula, or Parkes Weber syndrome, they found RASA1 mutations; they named this association CM-AVM for 'capillary malformation-arteriovenous malformation'; see 608354. ... The R183Q mutation was also found in either port-wine-stained skin or brain tissue from 23 (88%) of 26 patients with Sturge-Weber syndrome (185300). Shirley et al. (2013) suggested that nonsyndromic port-wine stains may represent a late origin of the somatic GNAQ mutation in vascular endothelial cells, whereas in Sturge-Weber syndrome, the mutation may occur earlier in development, in progenitor cells that are precursors to a larger variety of cell types and tissues, leading to the syndromic phenotype.
Familial multiple nevi flammei is a rare, genetic capillary malformation disorder characterized by dark red to purple birthmarks which manifest as flat, sharply circumscribed cutaneous lesions, typically situated in the head and neck region, in various members of a single family. The lesions grow proportionally with the individual, change in color and often thicken with age.
Right side is normal. Poland syndrome is usually diagnosed at birth, based upon the physical characteristics. ... It cannot be truly said that Poland described this syndrome because he only described one isolated case. ... His Poland syndrome manifested itself in the form of his disproportionately small right hand. [20] Olympic boxer Jérôme Thomas is also affected by Poland syndrome, as his left arm and hand are significantly shorter and smaller than his right. ... PGA Tour golfer Bryce Molder has Poland syndrome, with an absent left pectoral muscle and a small left hand. ... CS1 maint: uses authors parameter ( link ) ^ "Poland Syndrome" . Genetics Home Reference . Retrieved 12 December 2014 . ^ "Poland Syndrome - NORD (National Organization for Rare Disorders)" .
Alagille syndrome Other names Alagille–Watson syndrome (ALGS), hepatic ductular hypoplasia Alagille syndrome is inherited in an autosomal dominant manner Specialty Medical genetics , Gastroenterology , Cardiology Alagille syndrome is a genetic disorder that affects primarily the liver and the heart . ... "Alagille Syndrome" . StatPearls. PMID 29939604 . ... "Alagille syndrome" . Journal of Medical Genetics . 34 (2): 152–7. doi : 10.1136/jmg.34.2.152 . ... National Library of Medicine . ^ a b "Alagille syndrome" . Genetics Home Reference . Retrieved 2016-12-23 . ^ a b "Alagille Syndrome - Diagnosis & Treatment" . ... "Combined genetic analyses can achieve efficient diagnostic yields for subjects with Alagille syndrome and incomplete Alagille syndrome".
A number sign (#) is used with this entry because of evidence that Alagille syndrome-2 (ALGS2) is caused by heterozygous mutation in the NOTCH2 gene (600275) on chromosome 1p12. For a general phenotypic description and a discussion of genetic heterogeneity of Alagille syndrome, see ALGS1 (118450). Clinical Features Alagille syndrome is an autosomal dominant multisystem disorder defined clinically by hepatic bile duct paucity and cholestasis in association with cardiac, skeletal, and ophthalmologic manifestations.
Alagille syndrome is a genetic syndrome that can affect the liver and other parts of the body. ... Alagille syndrome can also affect other parts of the body including the heart, brain, kidneys, blood vessels, eyes, face, and skeleton. People with Alagille syndrome may have distinctive facial features too, including a broad, prominent forehead, deep-set eyes, and a small, pointed chin. Alagille syndrome is caused by changes or mutations in the JAG1 and NOTCH2 genes. ... While there is no known cure for Alagille syndrome, there are treatments that can help control symptoms.
A rare syndrome variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys.
Turnpenny and Ellard (2012) reviewed the clinical features, diagnosis, pathogenesis, and genetics of Alagille syndrome. Genetic Heterogeneity of Alagille Syndrome Another form of Alagille syndrome (ALGS2; 610205) is caused by mutation in the NOTCH2 gene (600275). ... Rocha et al. (2012) reviewed the several cases of moyamoya syndrome previously reported in Alagille syndrome, noting that it can be a feature of the disorder. ... Four had the features of Alagille syndrome. Furthermore, they observed interstitial deletion of 20p in a mother and son, both of whom had features of Alagille syndrome. ... A low incidence of deletions argued for a single gene etiology of the syndrome. Li et al. (1997) estimated that less than 7% of patients with Alagille syndrome have deletions of 20p12. ... Li et al. (1997) mapped the human JAG1 gene to the Alagille syndrome critical region within 20p12, and demonstrated 4 distinct coding mutations in JAG1 in 4 Alagille syndrome families.
Typical facial features of Alagille syndrome. Note broad forehead, deeply set eyes, and pointed chin. ... Renovascular anomalies, middle aortic syndrome, and moyamoya syndrome [Woolfenden et al 1999, Rocha et al 2012] have been reported. ... Pulmonic vascular system abnormalities are seen in isolation as well as in syndromes such as Noonan syndrome, Watson syndrome (pulmonic stenosis and neurofibromatosis type 1), Noonan syndrome with multiple lentigines, Down syndrome, and Williams syndrome. ... Liver disease is not part of the deletion 22q11.2 syndrome; genetic testing can be used to distinguish the two disorders. ... Heterozygous pathogenic variants in PTPN11 , SOS1 , RAF1 , and RIT1 account for 50%, ~10%, 5%, and 5% of Noonan syndrome, respectively. More than 8 genes are known to be associated with Noonan syndrome (see Noonan syndrome). 3.
The term "infantile spasms" can be used to describe the specific seizure manifestation in the syndrome, but is also used as a synonym for the syndrome itself. ... Symptomatic [ edit ] If a cause presents itself, the syndrome is referred to as symptomatic West syndrome, as the attacks manifest as a symptom of another problem. ... Furthermore, other causes increasingly being named in the literature are: Incontinentia pigmenti Foix-Chavany-Marie syndrome Patau syndrome (trisomy 13) Sturge-Weber syndrome neurometabolic diseases congential infections (e.g. ... This form of epilepsy is relatively difficult to treat in children who do not have the chromosomal abnormalities involved in Down syndrome. However, in children with Down syndrome, the syndrome is often far more mild, and the children often react better to medication. ... Sometimes West syndrome turns into a focal or other generalised epilepsy.
Clinical Features Edvardson et al. (2013) reported a consanguineous Palestinian family in which 4 members had a severe early infantile epileptic encephalopathy consistent with West syndrome. The patients developed infantile spasms, mainly of the flexor type, between 3 and 7 months of age, which were accompanied by hypsarrhythmia on EEG. ... As the patients grew older, the seizures continued and evolved clinically to Lennox-Gastaut syndrome. The patients showed developmental delay in the first few months of life, even predating the seizure disorder.
A number sign (#) is used with this entry because of evidence that early infantile epileptic encephalopathy-27 (EIEE27) is caused by heterozygous mutation in the GRIN2B gene (138252) on chromosome 12p12. Heterozygous mutation in the GRIN2B gene can also cause autosomal dominant mental retardation-6 (MRD6; 613970), a similar disorder without early-onset seizures. Description Early infantile epileptic encephalopathy-27 is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability of variable severity associated with early-onset seizures. Additional features may include hypotonia, abnormal movements, such as dystonia, and autistic features. Some patients may have structural malformations of cortical development on brain imaging.
A number sign (#) is used with this entry because of evidence that early infantile epileptic encephalopathy-70 (EIEE70) is caused by heterozygous mutation in the PHACTR1 gene (608723) on chromosome 6p24. For a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350). Clinical Features De Ligt et al. (2012) reported a 28-year-old woman with EIEE70. She had her first seizures at 3 weeks of age and thereafter showed severely delayed psychomotor development. She learned to sit and could speak a few words, but later lost these skills.
A number sign (#) is used with this entry because of evidence that early infantile epileptic encephalopathy-5 (EIEE5) is caused by heterozygous mutation in the SPTAN1 gene (182810) on chromosome 9q34. For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350). Clinical Features Tohyama et al. (2008) reported 2 unrelated Japanese infants, a girl and a boy, with early infantile epileptic encephalopathy. Both had onset of intractable seizures associated with hypsarrhythmia at age 3 months. Both had profound mental retardation with lack of visual attention and speech development, as well as spastic quadriplegia.
Deprez et al. (2009) reviewed the genetics of epilepsy syndromes starting in the first year of life and included a diagnostic algorithm. EIEE1 is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from lissencephaly (LISX2; 300215) to Proud syndrome (300004) to infantile spasms without brain malformations (EIEE1) to syndromic (309510) and nonsyndromic (300419) mental retardation. ... The phenotype is also observed in other genetic disorders, including GLUT1 deficiency syndrome (606777); glycine encephalopathy (605899); Aicardi-Goutieres syndrome (225750); and in males with MECP2 mutations (300673), among others. ... Pavone et al. (1980) reported the infantile spasm syndrome in male monozygotic twins. Onset was on the same day when they were 6 months old. ... EEG demonstrated transition to hypsarrhythmia, suggesting West syndrome, at age 1 and 7 months, respectively.
A number sign (#) is used with this entry because of evidence that early infantile epileptic encephalopathy-60 (EIEE60) is caused by homozygous or compound heterozygous mutation in the CNPY3 gene (610774) on chromosome 6p. For a discussion of genetic heterogeneity of EIEE, see 308350. Clinical Features Mutoh et al. (2018) reported 3 patients from 2 unrelated Japanese families with EIEE60. The patients presented in the first months of life with myoclonic epilepsy and other seizure types associated with hypsarrhythmia on EEG. Two sibs later showed diffuse sharp- and slow-wave complexes on EEG, and the third patient had suppression-burst patterns. The seizures were initially partially controllable in the 2 sibs, but later became intractable.
A number sign (#) is used with this entry because of evidence that early infantile epileptic encephalopathy-40 (EIEE40) is caused by homozygous mutation in the GUF1 gene (617064) on chromosome 4p12. One such family has been reported. For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350). Clinical Features Alfaiz et al. (2016) reported 3 sibs, born of consanguineous Algerian parents, with onset of refractory seizures associated with hypsarrhythmia between 4 and 6 months of age. Onset of seizures was associated with psychomotor arrest and poor neurologic outcome, including poor or absent eye contact, hypotonia, spasticity, spastic tetraparesis and choreoathetosis (in 1 patient), dystonic fits, no babbling, and an inability to handle small objects. Brain imaging of 1 patient was normal at first, but later showed diffuse cortical atrophy.
West syndrome is characterized by a specific type of seizure ( infantile spasms ) seen in infancy and childhood. This syndrome leads to developmental regression and causes a specific pattern, known as hypsarrhythmia (chaotic brain waves), on electroencephalography (EEG) testing.
Both fast and slow variants, depending on the aetiology, have been reported. Etiology The aetiology of the syndrome is variable. Cerebral anomalies are detected in 70-80% of cases. The most common causes of these anomalies are malformations (most frequently tuberous sclerosis (Bourneville disease), or sequelae of ischemia or meningoencephalitis), a genetic anomaly (such as trisomy 21, the 1p36 deletion or mutations in the ARX or STK9 genes) or a metabolic disease (such as a mitochondrial disorder or phenylketonuria). Around 10% of cases of West syndrome are idiopathic: in these infants psychomotor development is normal before onset of the spasms and the contractions and hypsarrhythmia are symmetric and respond to medication. ... Differential diagnosis The differential diagnosis may be problematic and should include Sandifier syndrome, benign myoclonus, hyperekplexia (see these terms), gastro-oesophageal reflux and breath holding spells.
Infantile Bartter syndrome with deafness, a phenotypic variant of Bartter syndrome (see this term) is characterized by maternal polyhydramnios, premature delivery, polyuria and sensorineural deafness and is associated with hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure, and vascular resistance to angiotensin II. Epidemiology It is the least common of all recessive types of Bartter syndrome. Clinical description Infantile Bartter syndrome with deafness is a severe type of Bartter syndrome manifesting prenatally with maternal polyhydramnios (due to fetal polyuria) usually evident by the end of 2nd trimester, often leading to preterm labour and prematurity. ... Hypokalemic alkalosis, hypomagnesemia, hyperprostaglandin E-uria and hypochloremia are noted (hypercalciuria is only transient). Etiology Infantile Bartter syndrome with deafness is caused by a defect in chloride transport in thick ascending loop of Henle and distal convoluted tubule as a consequence of inactivating mutations of the gene BSND (1p32.3) encoding for the protein Barttin (Bartter syndrome type 4A), required for the location and proper function of the voltage sensitive, Ka and Kb chloride channels of the basolateral membrane, (ClCKa and ClCKb). In addition to mutations of Barttin, infantile Bartter syndrome with deafness may be caused by digeneic ( CLCKA and CLCKB 1p36) mutations inactivating all the 4 alleles of the 2 genes (or Bartter syndrome type 4B).
Seaver Cassidy syndrome Other names Facial dysmorphism-shawl scrotum-joint laxity syndrome Seaver Cassidy syndrome is a very rare disorder characterized by certain facial, genital, and skeletal deformities, as well as an unusual susceptibility to bleeding. [1] Seaver Cassidy syndrome was first described in 1991 by Laurie Seaver and Suzanne Cassidy. [2] Contents 1 Signs and symptoms 2 Diagnosis 3 Treatment 4 References 5 External links Signs and symptoms [ edit ] Signs of Seaver Cassidy syndrome include several facial disorders, including hypertelorism and telecanthus , epicanthal folds , downslanting palpebral fissures , ptosis , a broad nasal bridge, malar hypoplasia , a thin upper lip, a smooth philtrum , and low-set, prominent ears. Males with Seaver Cassidy syndrome may also experience an underdeveloped shawl scrotum and cryptorchidism . ... You can help by adding to it . ( August 2017 ) References [ edit ] ^ "Seaver Cassidy syndrome" . Check Orphan. Archived from the original on 2013-04-14 . Retrieved 2011-09-06 . ^ a b Seaver LH, Cassidy SB (December 1991). "New syndrome: mother and son with hypertelorism, downslanting palpebral fissures, malar hypoplasia, and apparently low-set ears associated with joint and scrotal anomalies". ... External links [ edit ] Seaver Cassidy syndrome at the Office of Rare Diseases Classification D ICD - 10 : none ICD - 9-CM : none MeSH : C537529 External resources Orphanet : 1778 This genetic disorder article is a stub .
OSLAM syndrome Other names Osteosarcoma-limb anomalies-erythroid macrocytosis syndrome OSLAM syndrome is inherited in an autosomal dominant manner OSLAM syndrome is a rare autosomal dominant hereditary disorder . Its name is an initialism of " o steo s arcoma , l imb a nomalies, and erythroid m acrocytosis with megaloblastic marrow syndrome". OSLAM syndrome was recognised and described by Mulvilhill et al. as a syndrome that increases susceptibility to tumours and is characterised by an impaired regulation of bone and marrow development. [1] [2] Individuals with OSLAM syndrome have an elevated risk of bone cancer, limb abnormalities, and enlarged red blood cells. ... You can help by adding to it . ( August 2017 ) See also [ edit ] Li-Fraumeni syndrome References [ edit ] ^ Mulvihill J.J., Gralnick H.R., Whang-Peng J., Leventhal B.G. (1977.)
A rare genetic disease characterized by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anemia. There have been no further descriptions in the literature since 1977.
A number sign (#) is used with this entry because of evidence that the Jansen type of metaphyseal chondrodysplasia (MCDJ) is caused by constitutively active heterozygous mutations in the parathyroid hormone-1 receptor gene (PTH1R; 168468) on chromosome 3p21. Description The Murk Jansen type of metaphyseal chondrodysplasia is characterized by severe short stature, short bowed limbs, clinodactyly, prominent upper face, and small mandible. Hypercalcemia and hypophosphatemia occur despite the lack of parathyroid abnormalities (summary by Cohen, 2002). Clinical Features Stoeckenius (1966) described affected mother and child with this disorder, which was formerly known as metaphyseal dysostosis. The mother's condition may have been the result of new dominant mutation.
Jansen's metaphyseal chondrodysplasia (JMC) is a very rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling gait, bowed legs, contracture deformities of the joints, short hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia.
Summary Clinical characteristics. Hypochondroplasia is a skeletal dysplasia characterized by short stature; stocky build; disproportionately short arms and legs; broad, short hands and feet; mild joint laxity; and macrocephaly. Radiologic features include shortening of long bones with mild metaphyseal flare; narrowing of the inferior lumbar interpedicular distances; short, broad femoral neck; and squared, shortened ilia. The skeletal features are very similar to those seen in achondroplasia but tend to be milder. Medical complications common to achondroplasia (e.g., spinal stenosis, tibial bowing, obstructive apnea) occur less frequently in hypochondroplasia but intellectual disability and epilepsy may be more prevalent. Children usually present as toddlers or at early school age with decreased growth velocity leading to short stature and limb disproportion.
A primary bone dysplasia with micromelia characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints. Epidemiology Hypochondroplasia estimated incidence is 1/50,000. The exact prevalence is unknown. Clinical description Hypochondroplasia is a skeletal dysplasia characterized by short stature; stocky build; disproportionately short arms and legs; broad, short hands and feet; mild joint laxity; and macrocephaly. Radiologic features include shortening of long bones with mild metaphyseal flare; narrowing of the inferior lumbar interpedicular distances; short, broad femoral neck; and squared, shortened ilia. The skeletal features are very similar to those seen in achondroplasia but tend to be milder.
Hypochondroplasia is a form of skeletal disease characterized by very short stature. Hypochondroplasia is similar to achondroplasia , but the features tend to be milder. People with hypochondroplasia usually have very short stature, large head, accentuated lordosis, short arms and legs, and broad, short hands and feet. Other features include a limited range of motion in the elbows, lordosis , and bowed legs. Uncommon symptoms may include learning difficulties and convulsions. Hypochondroplasia is caused by mutations in the FGFR3 gene and is inherited in an autosomal dominant fashion.
A number sign (#) is used with this entry because of evidence that hypochondroplasia can be caused by mutation in the gene for fibroblast growth factor receptor-3 (FGFR3; 134934), located on 4p, which is consistently mutated in achondroplasia (ACH; 100800). Not all patients with presumed hypochondroplasia have demonstrable mutations in the FGFR3 gene, suggesting genetic heterogeneity. Description Hypochondroplasia is a autosomal dominant disorder characterized by short-limbed dwarfism, lumbar lordosis, short and broad bones, and caudad narrowing of the interpediculate distance of the lumbar spine. It shows some resemblance to achondroplasia, but is much milder and can be distinguished on clinical and radiographic grounds (Walker et al., 1971). Nomenclature Lamy and Maroteaux (1961) suggested the term hypochondroplasia.
Hypochondroplasia is a form of short-limbed dwarfism. This condition affects the conversion of cartilage into bone (a process called ossification), particularly in the long bones of the arms and legs. Hypochondroplasia is similar to another skeletal disorder called achondroplasia, but the features tend to be milder. All people with hypochondroplasia have short stature. The adult height for men with this condition ranges from 138 centimeters to 165 centimeters (4 feet, 6 inches to 5 feet, 5 inches). The height range for adult women is 128 centimeters to 151 centimeters (4 feet, 2 inches to 4 feet, 11 inches). People with hypochondroplasia have short arms and legs and broad, short hands and feet .
BOD syndrome is a genetic condition characterized by underdeveloped “pinky” toenails or fingernails, normal intellect to mild intellectual disability, distinct facial features, and short stature. The cause of the condition is not known. BOD syndrome is thought to be inherited in an autosomal dominant fashion, however in many cases the condition occurs for the first time in a family due to a new mutation. Signs and symptoms of BOD syndrome are similar to, albeit milder than that of, Coffin-Siris syndrome . The relationship between these syndromes is presently unknown.
Brachymorphism-onychodysplasia-dysphalangism (BOD) is a very rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome (see this term) and BOD syndrome are perhaps allelic variants.
As noted in connection with the Coffin-Siris syndrome (CSS; 135900), the condition reported by Senior (1971) resembles that disorder except that mental retardation is milder. ... This disorder may be a mild form of Coffin-Siris syndrome or an independent entity. Verloes et al. (1993) suggested that it be called the brachymorphism-onychodysplasia-dysphalangism syndrome (BOD syndrome) because 'Senior syndrome' runs the risk of confusion with the Senior-Loken syndrome (266900). ... Brautbar et al. (2009) suggested that even though the patient met the minimal clinical diagnostic criteria of Coffin-Siris syndrome, some features, such as mild developmental delay and the more severe involvement of the feet when compared to the hands, are more consistent with BOD syndrome. Brautbar et al. (2009) suggested that CSS and BOD syndrome are probably allelic disorders.
While cognition is not affected in SHORT syndrome, some affected children have mild speech delay. ... Differential Diagnosis Table 3 provides a comparative analysis of disorders with some clinical similarities to SHORT syndrome. Table 3. Genes of Interest in the Differential Diagnosis of SHORT Syndrome View in own window Gene(s) / Genetic Mechanism Differential Disorder MOI Features of Differential Disorder Overlapping w/ SHORT syndrome Distinguishing from SHORT syndrome 11p15.5 hypomethylation mUPD7 CDKN1C HMGA2 IGF2 PLAG1 1 Silver-Russell syndrome (SRS) See footnote 2. ... Liver disease in Alagille syndrome LMNA Hutchinson-Gilford progeria syndrome (HGPS) AD Micrognathia, short stature, absence of subcutaneous fat Clinical features of HGPS develop in childhood (vs typically evident at birth in SHORT syndrome). ... Silver-Russell syndrome (SRS) is genetically heterogeneous. ... Ranza et al [2020] Hallerman-Streiff syndrome. The facial features of SHORT syndrome can also be similar to those seen in Hallerman-Streiff syndrome in early life.
Other common manifestations of SHORT syndrome are mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and a recognizable facial gestalt. Epidemiology The prevalence of SHORT syndrome is unknown. Less than 50 cases have been reported in the literature to date. Clinical description Individuals with SHORT syndrome often display mild intrauterine growth restriction. ... Differential diagnosis Differential diagnoses include Silver-Russell syndrome, Alagille syndrome, Floating-Harbor syndrome, growth delay due to insulin-like growth factor I resistance, Berardinelli-Seip congenital lipodystrophy and Hutchinson-Gilford progeria syndrome. ... Prognosis Individuals with SHORT syndrome are considered to have a normal life-expectancy.
Unsourced material may be challenged and removed. Find sources: "SHORT syndrome" – news · newspapers · books · scholar · JSTOR ( December 2009 ) ( Learn how and when to remove this template message ) SHORT syndrome Other names -Aarskog-Ose-Pande syndrome -lipodystrophy-Rieger anomaly-diabetes syndrome -Rieger anomaly-partial lipodystrophy syndrome -PIK3R1-associated syndromic insulin resistance with lipoatrophy SHORT syndrome is inherited in a autosomal dominant manner Specialty Multidisciplinary Causes PIK3R1 mutation. Frequency Rare, less than 50 cases have been reported. SHORT syndrome is a medical condition in which affected individuals have multiple birth defects in different organ systems . ... Other characteristics common in SHORT syndrome are a triangular face, a prominent forehead, small chin with a dimple, a loss of fat under the skin ( lipodystrophy ), prominent ears (but no low implantation or posterior localisation), hearing loss and delayed speech.Facial lipodystrophy may be evident during birth and later on in the chest and higher extremities, but it usually won't affect buttocks and legs. ... References [ edit ] ^ Gorlin RJ, Cervenka J, Moller K, Horrobin M, Witkop CJ (1975). "Malformation syndromes. A selected miscellany". Birth Defects Orig.
Many of the features resembled those of the SHORT syndrome, but triangular face and lipoatrophy were not present. ... Cytogenetics In a mother with Rieger syndrome (180500) and polycystic ovaries (see 184700) and a son manifesting SHORT syndrome, Karadeniz et al. (2004) identified a t(1;4)(q31.2;q25) translocation. Because Rieger syndrome can be caused by mutation in the PITX2 gene (601542) on chromosome 4q25, Karadeniz et al. (2004) suggested that the 2 syndromes may represent a single condition reflecting variable expression of this gene. ... Reis et al. (2011) suggested that SHORT syndrome might be a contiguous gene deletion syndrome requiring deletion of 1 or more other genes in addition to BMP4. ... The authors suggested that SHORT syndrome is a highly specific diagnosis that relies heavily on the facial gestalt.
Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay, commonly known by the acronym SHORT syndrome, is a rare disorder that affects many parts of the body. Most people with SHORT syndrome are small at birth and gain weight slowly in childhood. ... This appearance of premature aging is sometimes described as progeroid. Most people with SHORT syndrome have distinctive facial features. ... Frequency SHORT syndrome is a rare condition; its prevalence is unknown. Only a few affected individuals and families have been reported worldwide. Causes SHORT syndrome results from mutations in the PIK3R1 gene.
15q11-q13 duplication syndrome (dup15q syndrome) is a developmental disorder; its signs and symptoms vary among affected individuals. ... More than half of people with dup15q syndrome have recurrent seizures (epilepsy). ... Hearing loss in childhood is common in dup15q syndrome and usually results from ear infections that cause fluid buildup in the middle ear . ... However, if ear infections are left untreated during early childhood, the hearing loss can interfere with language development and worsen the speech problems associated with dup15q syndrome. About 30 percent of individuals with dup15q syndrome are born with eyes that do not look in the same direction (strabismus). ... Learn more about the chromosome associated with 15q11-q13 duplication syndrome chromosome 15 Inheritance Pattern Dup15q syndrome caused by an isodicentric chromosome 15 is usually not inherited.
Description The principal features of Sabinas brittle hair syndrome, a form of nonphotosensitive trichothiodystrophy (TTDN; see 234050), include congenital hypotrichosis, mild to moderate onychodysplasia, varying mental retardation, and sterility. ... Further information was reported by Howell et al. (1980), who referred to the disorder as the Sabinas brittle hair syndrome after the name of the town of origin of affected families. ... King et al. (1984) suggested that this disorder is the same as those described elsewhere as the Pollitt syndrome and the Amish hair-brain syndrome (see 234050). Inheritance Parental consanguinity and the occurrence of Sabinas syndrome in affected brothers and sisters support autosomal recessive inheritance (Howell et al., 1981). Molecular Genetics In 2 cases of Sabinas syndrome and 1 case of Pollitt syndrome, Nakabayashi et al. (2005) failed to find mutation in the C7ORF11 gene (609188), mutations in which were found in other nonphotosensitive TTD cases with mental retardation and decreased fertility (see 234050).
Galloway Mowat syndrome Other names Galloway Syndrome, Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type, Microcephaly-Hiatal Hernia-Nephrosis, Galloway Type, Nephrosis-Microcephaly Syndrome, Nephrosis-Neuronal Dysmigration Syndrome, Microcephaly-Hiatal Hernia-Nephrotic Syndrome Galloway Mowat syndrome has an autosomal recessive pattern of inheritance . Galloway Mowat syndrome is a very rare autosomal recessive [1] genetic disorder, consisting of a variety of features including hiatal hernia , microcephaly and nephrotic syndrome . [2] Contents 1 Cause 2 Genetics 3 Diagnosis 4 Treatment 5 References 6 External links Cause [ edit ] The exact genetic defect in Galloway Mowat syndrome is yet to be discovered. ... Multiple genes (10 genes as of October 2020) are causal for the clinical symptoms of Galloway Mowat syndrome. There is one gene, LAGE3, associated with X-linked inheritance of Galloway Mowat syndrome. [ citation needed ] Diagnosis [ edit ] This section is empty. ... "Congenital microcephaly with hiatus hernia and nephrotic syndrome in two sibs" . Journal of Medical Genetics . 5 (4): 319–321. doi : 10.1136/jmg.5.4.319 . ... "Podocyte proteins in Galloway-Mowat syndrome". Pediatric Nephrology (Berlin, Germany) . 16 (12): 1022–1029. doi : 10.1007/s004670100018 .
A number sign (#) is used with this entry because of evidence that Galloway-Mowat syndrome-1 (GAMOS1) is caused by homozygous mutation in the WDR73 gene (616144) on chromosome 15q25. ... More variable features include optic atrophy, movement disorders, seizures, and nephrotic syndrome (summary by Vodopiutz et al., 2015). ... Kingo et al. (1997) described an infant with presumed Galloway-Mowat syndrome who died at the age of 32 days. ... Most of the findings had previously been described in this syndrome; thyroid dysplasia and adrenal hypoplasia were found and considered likely components of the syndrome. ... One patient with nephrotic syndrome developed chronic renal insufficiency and died at age 5 years.
A number sign (#) is used with this entry because of evidence that Galloway-Mowat syndrome-8 (GAMOS8) is caused by homozygous mutation in the NUP133 gene (607613) on chromosome 1q42. ... Biallelic mutation in the NUP133 gene can also cause nephrotic syndrome type 18 (NPHS18; 618177). Description Galloway-Mowat syndrome-8 is an autosomal recessive disorder characterized by impaired psychomotor development, poor overall growth with microcephaly, and early-onset progressive nephrotic syndrome associated with focal segmental glomerulosclerosis on renal biopsy. ... The patients developed nephrotic syndrome with proteinuria and microscopic hematuria in the first years of life. ... INHERITANCE - Autosomal recessive GROWTH Other - Poor overall growth HEAD & NECK Head - Microcephaly Face - Dysmorphic facial features (in some patients) - Narrow forehead Eyes - Strabismus Teeth - Enamel hypoplasia CARDIOVASCULAR Vascular - Hypertension secondary to renal disease GENITOURINARY Kidneys - Nephrotic syndrome - Focal segmental glomerulosclerosis - Interstitial fibrosis - Tubular atrophy - Cystic dilatation - Focal foot process fusion or effacement MUSCLE, SOFT TISSUES - Hypotonia - Edema secondary to renal dysfunction NEUROLOGIC Central Nervous System - Global developmental delay - Impaired intellectual development - Seizures - Cortical atrophy on brain imaging (patient A) - Focal cortical dysplasia (patient A) - Loss of pyramidal cells in the hippocampus (patient A) - Cerebellar abnormalities (patient A) - Abnormal tangential cortical lamination (patient A) - Dysmorphic neurons (patient A) - Abnormal dendritic arborization (patient A) LABORATORY ABNORMALITIES - Proteinuria - Hematuria - Hypoalbuminemia - Uremia MISCELLANEOUS - Onset in infancy or early childhood - Death in childhood may occur without renal transplantation - One consanguineous Japanese family has been reported (last curated March 2019) MOLECULAR BASIS - Caused by mutation in the nucleoporin, 133-kD gene (NUP133, 607613.0004 ) ▲ Close
A number sign (#) is used with this entry because of evidence that Galloway-Mowat syndrome-4 (GAMOS4) is caused by homozygous or compound heterozygous mutation in the TP53RK gene (608679) on chromosome 20q13. Description Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities, and delayed psychomotor development. ... All patients presented with nephrotic syndrome with proteinuria in the first year of life followed shortly by end-stage renal disease resulting in death by age 3 years. ... INHERITANCE - Autosomal recessive GROWTH Height - Short stature HEAD & NECK Head - Microcephaly Ears - Large ears Eyes - Hypertelorism - Impaired vision ABDOMEN Gastrointestinal - Poor feeding GENITOURINARY Kidneys - Nephrotic syndrome - End-stage renal disease - Focal segmental glomerulosclerosis seen on renal biopsy - Diffuse mesangial sclerosis SKELETAL Hands - Tapered fingers SKIN, NAILS, & HAIR Skin - Abnormally pigmented skin macules MUSCLE, SOFT TISSUES - Hypotonia NEUROLOGIC Central Nervous System - Delayed psychomotor development - Speech delay - Seizures - Spasticity - Polymicrogyria - Poor myelination - Cerebral atrophy - Cerebellar hypoplasia LABORATORY ABNORMALITIES - Proteinuria MISCELLANEOUS - Onset in the first months of life - Death within the first years of life - Four patients from 3 unrelated consanguineous families have been reported (last curated October 2017) MOLECULAR BASIS - Caused by mutation in the TP53-regulating kinase gene (TP53RK, 608679.0001 ) ▲ Close
A number sign (#) is used with this entry because of evidence that Galloway-Mowat syndrome-3 (GAMOS3) is caused by homozygous or compound heterozygous mutation in the OSGEP gene (610107) on chromosome 14q11. Description Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. ... Clinical Features Chen et al. (2007) reported an infant with Galloway-Mowat syndrome. Prenatal ultrasound late in gestation revealed intrauterine growth retardation, microcephaly, and oligohydramnios. ... Most patients developed nephrotic syndrome with proteinuria in the first days or months of life followed shortly by end-stage renal disease, although 1 patient presented at age 3.5 years and another at age 13 years and did not have end-stage renal disease. ... INHERITANCE - Autosomal recessive GROWTH Height - Short stature Other - Intrauterine growth retardation - Failure to thrive HEAD & NECK Head - Microcephaly Face - Narrow forehead - Sloping forehead - Micrognathia - Small midface Ears - Floppy ears - Low-set ears - Abnormal ears Eyes - Hypertelorism - Deep-set eyes - Epicanthal folds - Microphthalmia - Strabismus - Downslanting palpebral fissures - Impaired vision Mouth - Small mouth - High-arched palate CARDIOVASCULAR Vascular - Hypertension ABDOMEN Gastrointestinal - Hiatal hernia GENITOURINARY Kidneys - Nephrotic syndrome - End-stage renal disease - Focal segmental glomerulosclerosis seen on renal biopsy - Diffuse mesangial sclerosis - Foot process effacement - Abnormalities of the glomerular basement membrane SKELETAL Pelvis - Hip dislocation Hands - Arachnodactyly - Camptodactyly MUSCLE, SOFT TISSUES - Hypotonia - Edema NEUROLOGIC Central Nervous System - Delayed psychomotor development - Intellectual disability - Speech delay - Seizures - Spasticity - Gyral abnormalities - Simplified gyral pattern - Pachygyria - Lissencephaly - Cerebellar atrophy - Cerebral atrophy - Enlarged ventricles - Thin corpus callosum - Poor myelination PRENATAL MANIFESTATIONS Amniotic Fluid - Oligohydramnios LABORATORY ABNORMALITIES - Proteinuria - Hypoalbuminemia MISCELLANEOUS - Onset at birth or in the first months of life - Progressive renal failure in most patients - Most patients die in early childhood MOLECULAR BASIS - Caused by mutation in the O-sialoglycoprotein endopeptidase gene (OSGEP, 610107.0001 ) ▲ Close
A number sign (#) is used with this entry because of evidence that X-linked Galloway-Mowat syndrome-2 (GAMOS2) is caused by hemizygous mutation in the LAGE3 gene (300060) on chromosome Xq28. Description Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. ... The patients presented with nephrotic syndrome with proteinuria between 3 months and 2 years of age. ... INHERITANCE - X-linked recessive GROWTH Height - Short stature Other - Intrauterine growth retardation HEAD & NECK Head - Microcephaly Face - Narrow forehead - Micrognathia Eyes - Nystagmus - Esotropia Mouth - High-arched palate ABDOMEN Gastrointestinal - Poor feeding GENITOURINARY Kidneys - Nephrotic syndrome - End-stage renal disease (in some patients) - Focal segmental glomerulosclerosis seen on renal biopsy - Minimal change disease SKELETAL Spine - Scoliosis Hands - Arachnodactyly MUSCLE, SOFT TISSUES - Hypotonia NEUROLOGIC Central Nervous System - Delayed psychomotor development - Intellectual disability - Speech delay - Seizures - Spasticity - Dysmetria - Polymicrogyria - Poor myelination - Cerebral atrophy - Cerebellar atrophy LABORATORY ABNORMALITIES - Proteinuria MISCELLANEOUS - Onset in the first months or years of life - Death may occur - Four patients from 3 unrelated families have been reported (last curated October 2017) MOLECULAR BASIS - Caused by mutation in the L antigen family, member 3 gene (LAGE3, 300060.0001 ) ▲ Close
A number sign (#) is used with this entry because of evidence that Galloway-Mowat syndrome-5 (GAMOS5) is caused by homozygous mutation in the TPRKB gene (608680) on chromosome 2p13. Description Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities, and delayed psychomotor development. ... The patients presented with nephrotic syndrome with proteinuria around 4 years of age. ... INHERITANCE - Autosomal recessive HEAD & NECK Head - Microcephaly Face - Facial dysmorphism - Elongated face - Prominent chin Ears - Fleshy ears - Deafness Eyes - Epicanthal folds - Deep-set eyes - Hypertelorism GENITOURINARY Kidneys - Nephrotic syndrome - End-stage renal disease (in some patients) - Focal segmental glomerulosclerosis seen on renal biopsy MUSCLE, SOFT TISSUES - Edema NEUROLOGIC Central Nervous System - Delayed psychomotor development - Spasticity - Ataxia - Pachygyria - Brain atrophy - Demyelination - Enlarged ventricles LABORATORY ABNORMALITIES - Proteinuria MISCELLANEOUS - Onset in the first months or years of life - Death may occur in early childhood - Two unrelated patients from consanguineous families have been reported (last curated October 2017) MOLECULAR BASIS - Caused by mutation in the TP53RK-binding protein gene (TPRKB, 608680.0001 ) ▲ Close
Clinical description Disease onset is typically within the first few months of life, but may be detected in childhood with later onset nephrotic syndrome (NS). Clinical manifestations, primarily involving the kidney and central nervous system, are heterogeneous. Renal manifestations range from isolated proteinuria to full blown early-onset nephrotic syndrome (NS), which is multidrug resistant and rapidly progresses to end-stage kidney disease (ESKD). ... Differential diagnosis The main differential diagnoses include Pierson syndrome, ARHGDIA mutations, coenzyme Q deficiency, other mitochondrial disorders, sialidosis and congenital disorders of glycosylation. In patients with no renal involvement at the time of assessment, differential diagnosis extend to syndromes with progressive microcephaly (including those of prenatal onset) and CNS malformations such as the complex cortical dysplasias with other brain malformations (which encompass among others several dominant syndromes causes by mutation in the tubulin genes). ... Epilepsy may be intractable. The nephrotic syndrome does not respond to either steroid or immunosuppressive therapy.
Galloway-Mowat syndrome is a rare, neurodegenerative disorder characterized by various developmental and physical abnormalities. Signs and symptoms may include small head size (microcephaly); developmental delay; seizures; nephrotic syndrome ; hiatal hernia ; optic atrophy ; movement disorders ; and intellectual disability. Other physical abnormalities may also be present. Galloway-Mowat syndrome may be caused by changes (mutations) in the WDR73 gene and is inherited in an autosomal recessive manner.
A number sign (#) is used with this entry because of evidence that Galloway-Mowat syndrome-6 (GAMOS6) is caused by homozygous or compound heterozygous mutation in the WDR4 gene (605924) on chromosome 21q22. Description Galloway-Mowat syndrome is a phenotypically heterogeneous disorder characterized by neurodevelopmental defects combined with renal-glomerular disease manifest as nephrotic syndrome and proteinuria. ... Braun et al. (2018) reported 4 sibs, born of Indian parents who denied consanguinity, with a complex disorder comprising poor growth, impaired development, and age-dependent nephrotic syndrome. The patients ranged in age from 4 to 15 years. ... The 3 older patients had nephrotic syndrome with proteinuria, and renal biopsy of 2 patients showed focal segmental glomerulosclerosis with podocyte foot process effacement. ... INHERITANCE - Autosomal recessive GROWTH Height - Short stature Weight - Low weight Other - Poor overall growth HEAD & NECK Head - Microcephaly Face - Dysmorphic facial features, variable (in some patients) Eyes - Periorbital fullness - Epicanthal folds Nose - Anteverted nares Mouth - Wide mouth - Downturned corners of the mouth - High-arched palate Teeth - Small teeth GENITOURINARY Kidneys - Nephrotic syndrome (in some patients) - Focal segmental glomerulosclerosis seen on renal biopsy - Effacement of podocyte foot processes SKELETAL - Delayed bone age Hands - Fifth finger clinodactyly NEUROLOGIC Central Nervous System - Delayed development - Delayed walking - Speech and language delay - Impaired intellectual development - Learning disabilities - Sleep disturbances - Cerebellar atrophy (in some patients) Behavioral Psychiatric Manifestations - Stereotypic movements - Sudden bursts of laughter ENDOCRINE FEATURES - Growth hormone deficiency (in some patients) - Hypogonadotropic hypogonadism, partial (in some patients) - Hypothyroidism (in some patients) LABORATORY ABNORMALITIES - Proteinuria (in some patients) - Hypoalbuminemia (in some patients) MISCELLANEOUS - Onset in infancy or early childhood - Variable phenotype - Renal impairment may be age-dependent or may not be present MOLECULAR BASIS - Caused by mutation in the WD repeat-containing protein 4 gene (WDR4, 605924.0002 ) ▲ Close
A number sign (#) is used with this entry because of evidence that Galloway-Mowat syndrome-7 (GAMOS7) is caused by homozygous or compound heterozygous mutation in the NUP107 gene (607617) on chromosome 12q15. Biallelic mutation in the NUP107 gene can also cause nephrotic syndrome type 11 (NPHS11; 616730). Description Galloway-Mowat syndrome-7 (GAMOS7) is an autosomal recessive disorder characterized by developmental delay, microcephaly, and early-onset nephrotic syndrome (summary by Rosti et al., 2017). ... Clinical Features Rosti et al. (2017) reported 5 patients from 2 unrelated consanguineous families, one of which was of Turkish descent, with a nephrotic syndrome similar to Galloway-Mowat syndrome. ... Two sibs from 1 family (MIC-670) developed progressive nephrotic syndrome in the first decade, manifest as proteinuria, hypoalbuminemia, edema, and hypercholesterolemia. ... A patient from a family (A1830) of European descent who was compound heterozygous for a frameshift and an in-frame 3-bp deletion in the NUP107 gene also had nephrotic syndrome with microcephaly, intellectual disability, and dilated cardiomyopathy.
Bartter syndrome is a group of very similar kidney disorders that cause an imbalance of potassium, sodium, chloride, and related molecules in the body. In some cases, Bartter syndrome becomes apparent before birth. ... Types I, II, and IV have the features of antenatal Bartter syndrome. Because type IV is also associated with hearing loss, it is sometimes called antenatal Bartter syndrome with sensorineural deafness. ... The genes associated with Bartter syndrome play important roles in normal kidney function . ... The resulting imbalance of ions in the body leads to the major features of Bartter syndrome. In some people with Bartter syndrome, the genetic cause of the disorder is unknown.
Unsourced material may be challenged and removed. Find sources: "Mallory–Weiss syndrome" – news · newspapers · books · scholar · JSTOR ( October 2015 ) ( Learn how and when to remove this template message ) Mallory–Weiss syndrome Other names Gastro-esophageal laceration syndrome Mallory–Weiss tear affecting the esophageal side of the gastroesophageal junction Specialty Gastroenterology Mallory–Weiss syndrome or gastro-esophageal laceration syndrome refers to bleeding from a laceration in the mucosa at the junction of the stomach and esophagus . ... ISBN 9780983224600 . ^ Caroli A, Follador R, Gobbi V, Breda P, Ricci G (1989). "[Mallory-Weiss syndrome. Personal experience and review of the literature]". ... "Mallory–Weiss syndrome in children" . Diseases of the Esophagus . 12 (1): 65–67. doi : 10.1046/j.1442-2050.1999.00006.x . ... "Clinical Study of Mallory-Weiss Syndrome in the Aged Patients Over 75 Year. ... "Treatment of actively bleeding Mallory-Weiss syndrome: epinephrine injection or band ligation?".
Smith-Magenis syndrome is a developmental disorder that affects many parts of the body. ... Disrupted sleep patterns are characteristic of Smith-Magenis syndrome, typically beginning early in life. ... Although less common, heart and kidney defects also have been reported in people with Smith-Magenis syndrome. Frequency Smith-Magenis syndrome affects at least 1 in 25,000 individuals worldwide. ... A small percentage of people with Smith-Magenis syndrome have a mutation in the RAI1 gene instead of a chromosomal deletion. ... Learn more about the gene and chromosome associated with Smith-Magenis syndrome RAI1 chromosome 17 Inheritance Pattern Smith-Magenis syndrome is usually not inherited.