Gougerot–Blum syndrome Other names Pigmented purpuric lichenoid dermatitis , [1] and Pigmented purpuric lichenoid dermatitis of Gougerot and Blum [1] Specialty Dermatology Gougerot–Blum syndrome is a variant of pigmented purpuric dermatitis , a skin condition characterized by minute, rust-colored to violaceous, lichenoid papules that tend to fuse into plaques of various hues. [2] : 829 Relative to other variants, it is characterized clinically by a male predominance, pruritus, with a predilection for the legs, and histologically, it features a densely cellular lichenoid infiltrate. [3] It was characterized in 1925. [4] Gougerot–Blum syndrome is named after the French dermatologists Henri Gougerot (1881–1955) and Paul Blum (1878–1933). ... External links [ edit ] Classification D DiseasesDB : 30753 v t e Pigmentation disorders / Dyschromia Hypo- / leucism Loss of melanocytes Vitiligo Quadrichrome vitiligo Vitiligo ponctué Syndromic Alezzandrini syndrome Vogt–Koyanagi–Harada syndrome Melanocyte development Piebaldism Waardenburg syndrome Tietz syndrome Loss of melanin / amelanism Albinism Oculocutaneous albinism Ocular albinism Melanosome transfer Hermansky–Pudlak syndrome Chédiak–Higashi syndrome Griscelli syndrome Elejalde syndrome Griscelli syndrome type 2 Griscelli syndrome type 3 Other Cross syndrome ABCD syndrome Albinism–deafness syndrome Idiopathic guttate hypomelanosis Phylloid hypomelanosis Progressive macular hypomelanosis Leukoderma w/o hypomelanosis Vasospastic macule Woronoff's ring Nevus anemicus Ungrouped Nevus depigmentosus Postinflammatory hypopigmentation Pityriasis alba Vagabond's leukomelanoderma Yemenite deaf-blind hypopigmentation syndrome Wende–Bauckus syndrome Hyper- Melanin / Melanosis / Melanism Reticulated Dermatopathia pigmentosa reticularis Pigmentatio reticularis faciei et colli Reticulate acropigmentation of Kitamura Reticular pigmented anomaly of the flexures Naegeli–Franceschetti–Jadassohn syndrome Dyskeratosis congenita X-linked reticulate pigmentary disorder Galli–Galli disease Revesz syndrome Diffuse/ circumscribed Lentigo / Lentiginosis : Lentigo simplex Liver spot Centrofacial lentiginosis Generalized lentiginosis Inherited patterned lentiginosis in black persons Ink spot lentigo Lentigo maligna Mucosal lentigines Partial unilateral lentiginosis PUVA lentigines Melasma Erythema dyschromicum perstans Lichen planus pigmentosus Café au lait spot Poikiloderma ( Poikiloderma of Civatte Poikiloderma vasculare atrophicans ) Riehl melanosis Linear Incontinentia pigmenti Scratch dermatitis Shiitake mushroom dermatitis Other/ ungrouped Acanthosis nigricans Freckle Familial progressive hyperpigmentation Pallister–Killian syndrome Periorbital hyperpigmentation Photoleukomelanodermatitis of Kobori Postinflammatory hyperpigmentation Transient neonatal pustular melanosis Other pigments Iron Hemochromatosis Iron metallic discoloration Pigmented purpuric dermatosis Schamberg disease Majocchi's disease Gougerot–Blum syndrome Doucas and Kapetanakis pigmented purpura / Eczematid-like purpura of Doucas and Kapetanakis Lichen aureus Angioma serpiginosum Hemosiderin hyperpigmentation Other metals Argyria Chrysiasis Arsenic poisoning Lead poisoning Titanium metallic discoloration Other Carotenosis Tar melanosis Dyschromia Dyschromatosis symmetrica hereditaria Dyschromatosis universalis hereditaria See also Skin color Skin whitening Tanning Sunless Tattoo removal Depigmentation This cutaneous condition article is a stub .
3q29 microdeletion syndrome (also known as 3q29 deletion syndrome) is a condition that results from the deletion of a small piece of chromosome 3 in each cell. ... Infants with 3q29 microdeletion syndrome often have feeding difficulties and do not grow and gain weight at the expected rate (which is described as failure to thrive). ... Causes Most people with 3q29 microdeletion syndrome are missing about 1.6 million DNA building blocks (base pairs), also written as 1.6 megabases (Mb), at position q29 on chromosome 3. ... (An extra copy of this segment causes another condition called 3q29 microduplication syndrome.) The chromosome segment most commonly deleted in people with 3q29 microdeletion syndrome contains about 20 genes. ... Most cases of 3q29 microdeletion syndrome result from a new (de novo) chromosomal change and occur in people with no history of the deletion in their family.
A number sign (#) is used with this entry because it represents a contiguous gene deletion syndrome on chromosome 3q29. Clinical Features Willatt et al. (2005) reported the identification of 6 patients with 3q29 microdeletion syndrome. ... Quintero-Rivera et al. (2010) reported 2 unrelated patients, a 10-year-old Caucasian girl and a 15-year-old Hispanic boy, with chromosome 3q29 deletion syndrome. Common clinical features included delayed psychomotor development with delayed waking and poor motor skills, autism with speech delay, mental retardation, and psychiatric disturbances, including aggression, anxiety, hyperactivity, and bipolar disorder with psychosis in 1. ... The presence of 2 nearly identical low-copy repeat (LCR) sequences in BAC clones on each side of the deletion breakpoint suggested that nonallelic homologous recombination is the likely mechanism of disease causation in this syndrome. Mulle et al. (2010) identified a region on chromosome 3q29 in which copy number variation (CNV) was significantly associated with schizophrenia (SCZD; 181500). ... Quintero-Rivera et al. (2010) proposed a role for haploinsufficiency of the FBXO45 (609112), DLG1 (601014), and PAK2 (605022) genes in the psychiatric manifestations of 3q29 deletion syndrome, since these genes play putative role in synaptic transmission. ... INHERITANCE - Isolated cases GROWTH Weight - Low birth weight Other - Failure to thrive HEAD & NECK Face - Long, narrow face - Short philtrum Ears - Large ears - Low-set ears - Posteriorly rotated ears Nose - High nasal bridge Mouth - Thin upper lip CHEST Ribs Sternum Clavicles & Scapulae - Pectus excavatum - Pectus carinatum SKELETAL Hands - Long, tapered fingers Feet - Clinodactyly NEUROLOGIC Central Nervous System - Mental retardation, mild to moderate - Gait ataxia Behavioral Psychiatric Manifestations - Autism - Psychosis - Anxiety - Hyperactivity - Aggression LABORATORY ABNORMALITIES - Subtelomeric deletion of long arm of chromosome 3 (3q29) MISCELLANEOUS - Contiguous gene deletion syndrome - Microdeletion is approximately 1.5Mb in length MOLECULAR BASIS - Caused by deletion of 1.5Mb on 3q29 encompassing 22 genes ▲ Close
A recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features. ... Congenital malformations are not common: there are only rare reports of horseshoe kidney, hypospadias and congenital heart defects (patent ductus arteriosus). Etiology The syndrome is caused by a recurrent deletion of the 3q subtelomeric region.
3q29 microdeletion syndrome is a rare chromosome disorder. ... The severity of symptoms can vary, and some people with 3q29 microdeletion syndrome may have very mild symptoms or may not even know they are affected. 3q29 microdeletion syndrome is caused by the loss of a small piece of DNA in one copy of chromosome 3, one of the 23 pairs of chromosomes in each cell in our bodies. Most cases of 3q29 microdeletion syndrome are de novo , which means the deletion was not passed down from either parent. ... Diagnosis of 3q29 microdeletion syndrome may be suspected by symptoms but is confirmed by genetic testing.
Prevalence SCS is one of the more common forms of syndromic craniosynostosis. Prevalence estimates range from 1:25,000 to 1:50,000 [Howard et al1997, Paznekas et al 1998]. It is generally agreed that SCS has approximately the same prevalence as Crouzon syndrome [Cohen &Kreiborg 1992]. Variability of the SCS phenotype may result in underdiagnosis. ... Disorders to Consider in the Differential Diagnosis of Saethre-Chotzen Syndrome (SCS) View in own window Disorder Gene(s) MOI Clinical Features Comment Overlapping Distinguishing Muenke syndrome FGFR3 1 AD Unilateral/bilateral coronal synostosis In SCS: 2 Low-set frontal hairline Downward-sloping palpebral fissures Ptosis Ear abnormalities Interdigital webbing In Muenke syndrome: Higher prevalence of DD (35% in Muenke syndrome vs 5% in SCS) SNHL (34% in Muenke syndrome vs rare in SCS) Consider testing for FGFR3 p.Pro250Arg if a TWIST1 pathogenic variant is not identified in an individual w/a presumed diagnosis of SCS. ... Isolated coronal fusion is ~10x more common than SCS. Baller-Gerold syndrome (BGS) RECQL4 AR Bilateral coronal craniosynostosis → brachycephaly w/ocular proptosis & flat forehead In BGS: Radial ray defect, usually w/oligodactyly (↓ # of digits), aplasia or hypoplasia of the thumb, &/or aplasia or hypoplasia of the radius Growth restriction Poikiloderma Rothmund-Thomson syndrome & RAPADILINO syndrome (OMIM 266280), also caused by RECQL4 pathogenic variants, have overlapping clinical features w/BGS. ... Management Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with Saethre-Chotzen syndrome (SCS), the evaluations summarized in Table 3 (if not performed as part of the evaluation that led to diagnosis) are recommended.
Saethre-Chotzen syndrome is a genetic condition characterized by the premature fusion of certain skull bones (craniosynostosis). ... The signs and symptoms of Saethre-Chotzen syndrome vary widely, even among affected individuals in the same family. Mutations (variants) in the TWIST1 gene cause most cases of Saethre-Chotzen syndrome. The condition is inherited in an autosomal dominant pattern.
A syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent superior and/or inferior crus, among other less common manifestations. Epidemiology Saethre-Chotzen syndrome (SCS) prevalence ranges from 1/25,000 to 1/50,000 livebirths. ... Differential diagnosis Although several features (such as 2-3 syndactyly of the hand) are unique to SCS, differential diagnoses include other syndromic forms of craniosynostosis such as Muenke, Baller-Gerold, Pfeiffer, and Crouzon syndromes as well as isolated unilateral coronal synostosis. Robinow_Sorauf syndrome is now considered within the spectrum of SCS, typically with milder features.
They pointed out similarities to and differences from the asymmetry of the face and skull with abnormalities of the digits described by Waardenburg et al. (1961). Gorlin (1971) thought the syndrome described by Aase and Smith (1970) was Chotzen syndrome. ... These skeletal changes in combination with cutaneous syndactyly of the toes, abnormal auricles, and acrocephaly have been described in the Saethre-Chotzen syndrome (Kopysc et al., 1980) and also in the Robinow-Sorauf syndrome (180750) (Carter et al., 1982). ... Kress et al. (2006) concluded that SCS and Muenke should be considered separate syndromes. Other Features Sahlin et al. (2007) found that 15 (52%) of 29 women over the age of 25 with Saethre-Chotzen syndrome from 15 families developed breast cancer. ... The gene for Greig cephalopolysyndactyly syndrome (GCPS; 175700) appears to be located at 7p13. ... Furthermore, patients with large (megabase-sized) deletions in this region have significant learning difficulties in addition to the clinical features of Saethre-Chotzen syndrome, which suggested that such mutations define a new microdeletion syndrome.
Williams syndrome is a genetic condition that affects many parts of the body. Signs and symptoms include mild to moderate intellectual disability; unique personality traits; distinctive facial features; and heart and blood vessel problems. Williams syndrome is caused by a person missing more than 25 genes from a specific area of chromosome 7 (a "deletion"). The loss of these genes contributes to the characteristic features. Although Williams syndrome is an autosomal dominant condition, most cases are not inherited and occur sporadically in people with no family history of Williams syndrome.
Williams syndrome is a developmental disorder that affects many parts of the body. ... Other problems with the heart and blood vessels, including high blood pressure (hypertension), have also been reported in people with Williams syndrome. Additional signs and symptoms of Williams syndrome include abnormalities of connective tissue (tissue that supports the body's joints and organs) such as joint problems and soft, loose skin. ... Causes Williams syndrome is caused by the deletion of genetic material from a specific region of chromosome 7. ... The relationship between other genes in the deleted region of chromosome 7 and the signs and symptoms of Williams syndrome is under investigation or unknown. ... In a small percentage of cases, people with Williams syndrome inherit the chromosomal deletion from a parent with the condition .
FISH can be used to identify Williams syndrome in at-risk relatives of the proband. ... After the reports of Williams et al [1961] and Beuren et al [1962], the condition was called Williams syndrome in the US and Williams-Beuren syndrome in Europe. ... These include: Noonan syndrome, deletion 22q11.2 (DiGeorge syndrome), Smith-Magenis syndrome, Kabuki syndrome, and fetal alcohol syndrome. ... Williams syndrome is caused by a contiguous gene deletion of the Williams-Beuren syndrome critical region (WBSCR) that encompasses the elastin gene ( ELN ). 2. 22q11.2 deletion syndrome is caused by deletion of genes within the DiGeorge chromosome region (DGCR). ... Fetal alcohol syndrome is caused by prenatal exposure to alcohol.
A number sign (#) is used with this entry because Williams-Beuren syndrome (WBS) is a contiguous gene deletion syndrome resulting from the hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23. ... In all 3 families, the parent was diagnosed after identification of the syndrome in the affected child. Sadler et al. (1993) reported Williams syndrome in mother and son. ... They estimated the prevalence of precocious puberty in Williams syndrome as 1 in 5 to 6 girls (18.3%). Broder et al. (1999) confirmed previous findings of hypertension in Williams syndrome. ... Mervis et al. (1999) discussed the subject of visuospatial constructive abilities in persons with normal intelligence and in persons with Williams syndrome or small deletions in the Williams syndrome region. ... The results indicated an exaggerated increase in serum 25-OH-D in response to challenge with vitamin D in patients with the Williams syndrome and in some of their sibs with no clinical features of the syndrome.
Genetic counseling. Smith-Magenis syndrome (SMS) is caused by a heterozygous deletion of or a heterozygous pathogenic variant in RAI1 on chromosome 17p11.2. ... Clinical Characteristics Clinical Description Smith-Magenis syndrome (SMS) has a clinically recognizable phenotype that includes physical, developmental, and behavioral features (Table 2). ... BHD syndrome is a hereditary cancer syndrome characterized by increased risk of cutaneous fibrofolliculomas, pulmonary cysts, spontaneous pneumothorax, and renal tumors. ... Differential Diagnosis Smith-Magenis syndrome (SMS) should be distinguished from other syndromes that include developmental delay, infantile hypotonia, short stature, distinctive facies, and a behavioral phenotype. The pervasive behavioral aspects and circadian sleep disorder associated with inverted melatonin secretion can help distinguish Smith-Magenis syndrome (SMS) from other neurodevelopmental disorders.
Patients present with distinctive physical features and a wide range of malformations (e.g. cardiac, renal). Epidemiology Smith-Magenis syndrome (SMS) has an estimated prevalence of 1/15,000-25,000 and has been identified worldwide in all ethnic groups, but is probably underdiagnosed. ... Differential diagnosis Differential diagnoses include Down syndrome, Williams syndrome, brachydactyly-intellectual deficit syndrome (del 2q37), and Kleefstra syndrome.
A number sign (#) is used with this entry because Smith-Magenis syndrome (SMS) is caused in most cases (90%) by a 3.7-Mb interstitial deletion in chromosome 17p11.2. ... Greenberg et al. (1991) concluded that SMS is a contiguous gene deletion syndrome. Moncla et al. (1991) added 3 patients to the 21 previously reported. ... This led to the conclusion that SMS may be similar to previously described microdeletion syndromes in which a single gene is implicated in most of the features but other deleted genes may modify the overall phenotype, e.g., Williams syndrome (194050) and Angelman syndrome (105830). ... Genotype/Phenotype Correlations Natacci et al. (2000) reported a 22-year-old woman with a deletion in the short arm of chromosome 17 who presented with the clinical manifestations of both Smith-Magenis syndrome and Joubert syndrome (JBTS; 213300). ... Population Genetics Smith-Magenis syndrome occurs in approximately 1 in 25,000 births (Juyal et al., 1996).
Progressive cognitive and behavioral changes resemble a frontal lobe syndrome (i.e., loss of social inhibition and executive functions) [Walterfang et al 2008]. ... Symptoms consistent with a neuromuscular syndrome suggestive of motor neuron disease have been reported [Miki et al 2010, Neutel et al 2012]. ... CT scanning of leg muscles reveals a selective pattern of fatty change that (in contrast to McLeod syndrome) tends to be symmetric [Ishikawa et al 2000]. ... The term "neuroacanthocytosis" is nonspecific and may refer to any disorder with neurologic abnormalities and acanthocytosis, including McLeod syndrome, abetalipoproteinemia (Bassen-Kornzweig syndrome), or hypobetalipoproteinemia. ... Other outdated terms include "chorea-amyotrophy-acanthocytosis syndrome" and "familial amyotrophic chorea with acanthocytosis."
Rare autosomal recessive genetic condition Neuroacanthocytosis Other names Acanthocytosis with neurologic disorder, Levine-Critchley syndrome, ChAc This condition is inherited via autosomal recessive manner Chorea-acanthocytosis (ChAc, also called Choreoacanthocytosis ), [1] is a rare hereditary disease caused by a mutation in a gene that directs structural proteins in red blood cells . ... "Neuropathology of Chorea-Acanthocytosis". Neuroacanthocytosis Syndromes II . pp. 187–195. doi : 10.1007/978-3-540-71693-8_15 .
Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia. Epidemiology NA syndromes are exceptionally rare with an estimated prevalence of less than 1 to 5/1,000,000 for each disorder. Clinical description NA syndromes include choreacanthocytosis, McLeod neuroacanthocytosis syndrome, pantothenate-kinase-associated neurodegeneration, and Huntington disease-like 2 (see these terms) which have a Huntington disease-like phenotype consisting of a choreatic movement disorder, psychiatric manifestations and cognitive decline, and additional multi-system features including myopathy and axonal neuropathy. Cardiomyopathy including arrhythmias may occur in McLeod syndrome. Etiology NA syndromes are caused by disease-specific genetic mutations. ... Genetic counseling Choreacanthocytosis follows an autosomal recessive pattern of inheritance, McLeod neuroacanthocytosis syndrome an X-linked pattern, and Huntington disease-like 2 an autosomal dominant pattern.
Signs and symptoms usually include chorea (involuntary, dance-like movements), involuntary movements of the face and tongue, progressive cognitive impairment, muscle weakness, seizures and behavioral or personality changes. NA syndromes typically progress to cause serious, disabling complications and are usually fatal. ... Although there is some disagreement in the medical literature about what disorders should be classified as forms of NA, four distinct disorders are usually classified as the "core" NA syndromes - chorea-acanthocytosis , McLeod syndrome , Huntington's disease-like 2 and pantothenate kinase-associated neurodegeneration (PKAN).
Chorea-acanthocytosis is one of a group of conditions called the neuroacanthocytoses that involve neurological problems and abnormal red blood cells. The condition is characterized by involuntary jerking movements ( chorea ), abnormal star-shaped red blood cells (acanthocytosis), and involuntary tensing of various muscles (dystonia), such as those in the limbs, face, mouth, tongue, and throat. Chorea-acanthocytosis is caused by mutations in the VPS13A gene and is inherited in an autosomal recessive manner. There are currently no treatments to prevent or slow the progression of chorea-acanthocytosis; treatment is symptomatic and supportive.
Differential diagnosis The differential diagnoses depend on the presenting symptoms and include McLeod neuroacanthocytosis syndrome, Huntington's disease, Huntington-like disorders, juvenile Parkinson's disease and Tourette's syndrome (see these terms).
Chorea-acanthocytosis is primarily a neurological disorder that affects movement in many parts of the body. Chorea refers to the involuntary jerking movements made by people with this disorder. People with this condition also have abnormal star-shaped red blood cells (acanthocytosis). This condition is one of a group of conditions called neuroacanthocytoses that involve neurological problems and abnormal red blood cells. In addition to chorea, another common feature of chorea-acanthocytosis is involuntary tensing of various muscles (dystonia), such as those in the limbs, face, mouth, tongue, and throat.
Description Choreoacanthocytosis (CHAC) is a rare disorder characterized by progressive neurodegeneration and red cell acanthocytosis, with onset in the third to fifth decade of life (Rubio et al., 1997). See also McLeod syndrome (300842) for a phenotypically similar disorder. ... The neurologic manifestations resembled those of the Gilles de la Tourette syndrome (137580) or Huntington disease (143100). ... No KX (314850) changes of McLeod syndrome were found. Serial neuroimaging studies demonstrated progressive caudate atrophy. ... Nomenclature Sakai et al. (1985) suggested the term 'Levine-Critchley syndrome' as the best designation for this disorder. ... 'Neuroacanthocytosis' was also considered inappropriate because it might include the Bassen-Kornzweig syndrome (200100). Jankovic et al. (1985) noted that there are 2 other neuroacanthocytoses: one associated with hypobetalipoproteinemia (615558) and another that is part of the McLeod syndrome.
Larsen syndrome Hands of a person with Larsen syndrome: Note the joint abnormalities of the left hand. ... Genetic analysis of patients with Larsen syndrome has found the syndrome is caused by missense mutations in the gene that codes for filamin B. ... These symptoms are all associated with Larsen syndrome, so they can be used to confirm that a fetus has the disorder. [7] Treatment [ edit ] Treatment for Larsen syndrome varies according to the symptoms of the individual. [1] Orthopedic surgery can be performed to correct the serious joint defects associated with Larsen syndrome. ... "Larsen Syndrome: A Case Report." Journal of Nepal Paediatric Society. 32.1 (2012): 85-87. ... "Cardiovascular Manifestations in the Larsen Syndrome." Pediatrics. 71.6 (1983): 942-946.
Larsen syndrome is a disorder that affects the development of bones throughout the body. The signs and symptoms of Larsen syndrome vary widely even within the same family. ... Many people with Larsen syndrome have an opening in the roof of the mouth (a cleft palate ). ... Their intellectual function is usually unaffected. Frequency Larsen syndrome occurs in approximately 1 in 100,000 newborns. ... Autosomal recessive inheritance of Larsen syndrome has been reported in a small number of families.
An orofacial clefting syndrome characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate. Epidemiology Larsen syndrome (LS) birth prevalence is estimated to be less than 1 in 100,000 in Europe. ... Midline cleft palate and conductive hearing loss have also commonly been reported. Etiology The syndrome is due to missense mutations or small in frame deletions in the FLNB gene (localized to 3p14.3) that encodes cytoskeletal protein filamin B. ... Differential diagnosis Differential diagnosis includes other more severe and lethal FLNB-related disorders: atelosteogenesis type I, atelosteogenesis type III and boomerang dysplasia as well as otopalatodigital syndrome type I and spondyloepiphyseal dysplasia, CHST3 type; chondrodysplasia with joint dislocations, gPAPP type; Larsen-like syndrome, B3GAT3 type; Reunion island's Larsen syndrome and Desbuquois syndrome. ... The autosomal recessive cases reported in the past may perhaps correspond to parental germline mosaicism, but are more likely to represent more recently defined recessive syndromes with similar but still distinct presentations.
Larsen syndrome is a disorder of the development of the bones. ... Other features may include short stature, hypermobility, cleft palate, hearing loss, and an abnormal curvature of the spine that may result in weakness of the arms and/or legs and other complications. Larsen syndrome is inherited in an autosomal dominant manner and is caused by mutations in the FLNB gene. ... Some are considered mild ( spondylocarpotarsal synostosis (SCT) syndrome and Larsen syndrome) and other are more severe ( atelosteogenesis types I (AOI) and III (AOIII) and boomerang dysplasia ).
The risk for sarcomatous degeneration of enchondromas, hemangiomas, or lymphangiomas is 15-30% in the setting of Maffucci syndrome. Maffucci syndrome is associated with a higher risk of CNS, pancreatic, and ovarian malignancies. Multiple enchondromas may present in 3 disorders: Ollier disease , Maffucci syndrome, and metachondromatosis . It is important to make the distinction between these diseases, particularly Ollier disease and Maffucci syndrome. ... "Maffucci syndrome" . Genetics Home Reference . Retrieved 2020-09-04 . ^ synd/1813 at Who Named It? ... External links [ edit ] Malfucci syndrome at Genetics Home Reference Gupta N, Kabra M (February 2007). "Maffucci syndrome" (PDF) . Indian Pediatr . 44 (2): 149–50.
Kaplan et al. (1993) reviewed 63 other cases, concluding that the syndrome is not hereditary, occurs in all races, and occurs in both sexes equally. ... Hemangiomas in such locations are rare in Maffucci syndrome. Inheritance Most cases of Maffucci syndrome have been sporadic (Halal and Azouz, 1991). Population Genetics Sun et al. (1985) reported that 9 patients with Maffucci syndrome seen at the Mayo Clinic developed chondrosarcoma. ... Couvineau et al. (2008) analyzed the coding sequence of PTHR1, IHH (600726), PTHRP (168470), and GNAS1 (139320) in leukocyte and/or tumor DNA from 61 and 23 patients affected with Ollier disease or Maffucci syndrome, respectively. No deleterious mutations were identified among the patients with Maffucci syndrome. ... In total, 35 of 43 (81%) individuals with Ollier disease and 10 of 13 (77%) with Maffucci syndrome carried IDH1 (98%) or IDH2 (2%) mutations in their tumors.
Maffucci syndrome has also similarly been linked to IDH1 and IDH2 mutations specifically the IDH1 R132C hotspot mutation. [15] This hotspot mutation is presumed to be responsible for the spindle cell hemangiomas and enchondromas in cases of Maffucci syndrome. ... Similar disorders such as Maffucci syndrome and hereditary multiple exostoses (HME) require differentiation during diagnosis. ... "Incidence, Predictive Factors, and Prognosis of Chondrosarcoma in Patients with Ollier Disease and Maffucci Syndrome: An International Multicenter Study of 161 Patients" . ... "Chondrosarcomas of the base of the skull in Ollier's disease or Maffucci's syndrome Three Case Reports and Review of the Literature" . ... External links [ edit ] Classification D ICD - 10 : Q78.4 ICD - 9-CM : 756.4 OMIM : 166000 MeSH : D004687 DiseasesDB : 9212 External resources eMedicine : radio/247 v t e Osteochondrodysplasia Osteodysplasia/ / osteodystrophy Diaphysis Camurati–Engelmann disease Metaphysis Metaphyseal dysplasia Jansen's metaphyseal chondrodysplasia Schmid metaphyseal chondrodysplasia Epiphysis Spondyloepiphyseal dysplasia congenita Multiple epiphyseal dysplasia Otospondylomegaepiphyseal dysplasia Osteosclerosis Raine syndrome Osteopoikilosis Osteopetrosis Other/ungrouped FLNB Boomerang dysplasia Opsismodysplasia Polyostotic fibrous dysplasia McCune–Albright syndrome Chondrodysplasia / chondrodystrophy (including dwarfism ) Osteochondroma osteochondromatosis Hereditary multiple exostoses Chondroma / enchondroma enchondromatosis Ollier disease Maffucci syndrome Growth factor receptor FGFR2 : Antley–Bixler syndrome FGFR3 : Achondroplasia Hypochondroplasia Thanatophoric dysplasia COL2A1 collagen disease Achondrogenesis type 2 Hypochondrogenesis SLC26A2 sulfation defect Achondrogenesis type 1B Autosomal recessive multiple epiphyseal dysplasia Atelosteogenesis, type II Diastrophic dysplasia Chondrodysplasia punctata Rhizomelic chondrodysplasia punctata Conradi–Hünermann syndrome Other dwarfism Fibrochondrogenesis Short rib – polydactyly syndrome Majewski's polydactyly syndrome Léri–Weill dyschondrosteosis
Maffucci syndrome is a disorder that primarily affects the bones and skin. ... The abnormal growths associated with Maffucci syndrome may become cancerous (malignant). ... The underlying cause of Maffucci syndrome is unknown. No specific genes related to this disorder have been identified.
Maffucci syndrome is a very rare genetic bone and skin disorder characterized by multiple enchondromas, leading to bone deformities, combined with multiple dark, irregularly shaped hemangiomas or less commonly lymphangiomas.
Maffucci syndrome is a disorder that primarily affects the bones and skin. ... Although the enchondromas associated with Maffucci syndrome start out as benign, they may become cancerous (malignant). ... People with Maffucci syndrome usually have a normal lifespan, and intelligence is unaffected. ... Causes In most people with Maffucci syndrome, the disorder is caused by mutations in the IDH1 or IDH2 gene. ... Mutations in other genes may also account for some cases of Maffucci syndrome. Learn more about the genes associated with Maffucci syndrome IDH1 IDH2 Inheritance Pattern Maffucci syndrome is not inherited.
Shprintzen-Goldberg syndrome is a disorder that affects many parts of the body. ... People with Shprintzen-Goldberg syndrome are often said to have a marfanoid habitus, because their bodies resemble those of people with a genetic condition called Marfan syndrome. ... Shprintzen-Goldberg syndrome has signs and symptoms similar to those of Marfan syndrome and another genetic condition called Loeys-Dietz syndrome. ... In addition, heart abnormalities are more common and usually more severe in Marfan syndrome and Loeys-Dietz syndrome. Frequency Shprintzen-Goldberg syndrome is a rare condition, although its prevalence is unknown. It is difficult to identify the number of affected individuals, because some cases diagnosed as Shprintzen-Goldberg syndrome may instead be Marfan syndrome or Loeys-Dietz syndrome, which have overlapping signs and symptoms.
Shprintzen–Goldberg syndrome Other names Marfanoid craniosynostosis syndrome [1] Shprintzen–Goldberg syndrome is inherited in an autosomal dominant manner Shprintzen–Goldberg syndrome is a multiple anomaly syndrome that has craniosynostosis , multiple abdominal hernias , cognitive impairment , and other skeletal malformations as key features. Several reports have linked the syndrome to a mutation in the FBN1 gene, but these cases do not resemble those initially described in the medical literature in 1982 by Shprintzen and Goldberg, [2] and Greally et al. in 1998 failed to find a causal link to FBN1. [3] At this time, the cause of Shprintzen–Goldberg syndrome remains uncertain. The syndrome is rare with fewer than 50 cases described in the medical literature to date. [ citation needed ] See also [ edit ] Craniosynostosis References [ edit ] ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Shprintzen Goldberg syndrome" . www.orpha.net . Retrieved 22 October 2019 . ^ Shprintzen, RJ; Goldberg, R (1982). "A recurrent pattern syndrome of craniosynostosis associated with arachnodactyly and abdominal hernias".
Diagnosis Formal diagnostic criteria for Shprintzen-Goldberg syndrome (SGS) have not been established. ... Nomenclature Goldberg-Shprintzen syndrome and Shprintzen-Goldberg omphalocele syndrome are separate syndromes, not related to SGS. Other names that have been used to refer to SGS: Craniosynostosis with arachnodactyly and abdominal hernias Marfanoid-craniosynostosis syndrome Shprintzen-Goldberg craniosynostosis syndrome Shprintzen-Goldberg marfanoid syndrome The term Furlong syndrome has been used to describe one individual with craniosynostosis, features of SGS, normal intelligence, and aortic enlargement. ... Differential Diagnosis Loeys-Dietz syndrome (LDS) and Marfan syndrome (MFS). ... FLNA Frontometaphyseal dysplasia & Melnick-Needles syndrome (See Otopalatodigital Spectrum Disorders.)
Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability.
Gorlin et al. (1990) discussed Shprintzen-Goldberg syndrome (SGS) and related syndromes. Ades et al. (1995) delineated the distinct skeletal abnormalities of the Shprintzen-Goldberg syndrome on the basis of 4 affected girls. ... Hassed et al. (1997) described a boy with Shprintzen-Goldberg syndrome, presumably the twelfth patient to be reported. ... Loeys et al. (2005) compared the clinical features of their series of cases with the Loeys-Dietz syndrome with that of SGS as presented by Greally et al. (1998) and with Marfan syndrome. ... The related disorders SGS and Furlong syndrome (LDS; see 609192) feature marfanoid habitus and craniosynostosis. ... In patients with Marfan syndrome (154700) who also had features of Shprintzen-Goldberg syndrome, including craniosynostosis and mental retardation, Sood et al. (1996) and Kosaki et al. (2006) identified heterozygous mutations in the FBN1 gene (134797.0022 and 134797.0045).
DeSanctis–Cacchione syndrome Other names Xeroderma pigmentosum with neurologic manifestation [1] DeSanctis–Cacchione syndrome is inherited in an autosomal recessive manner DeSanctis–Cacchione syndrome or Xeroderma pigmentosum is a Genetic disorder characterized by the skin and eye symptoms of xeroderma pigmentosum (XP) occurring in association with microcephaly, progressive mental retardation, retarded growth and sexual development, deafness, choreoathetosis, ataxia and quadriparesis. [2] Contents 1 Genetics 2 Diagnosis 3 Treatment 4 See also 5 References 6 External links Genetics [ edit ] In at least some case, the gene lesion involves a mutation in the CSB gene. [3] It can be associated with ERCC6 . [4] Diagnosis [ edit ] This section is empty. ... "Orphanet: De Sanctis Cacchione syndrome" . www.orpha.net . Retrieved 11 October 2019 . ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). ... "Identical mutations in the CSB gene associated with either Cockayne syndrome or the de Sanctis -Cacchione variant of xeroderma pigmentosum" . ... "Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-cacchione variant of xeroderma pigmentosum" . ... External links [ edit ] Classification D OMIM : 278800 MeSH : C535992 DiseasesDB : 29880 External resources Orphanet : 1569 v t e Metabolic disease : DNA replication and DNA repair-deficiency disorder DNA replication Separation/initiation: RNASEH2A Aicardi–Goutières syndrome 4 Termination/ telomerase : DKC1 Dyskeratosis congenita DNA repair Nucleotide excision repair Cockayne syndrome / DeSanctis–Cacchione syndrome Thymine dimer Xeroderma pigmentosum IBIDS syndrome MSI / DNA mismatch repair Hereditary nonpolyposis colorectal cancer Muir–Torre syndrome Mismatch repair cancer syndrome MRN complex Ataxia telangiectasia Nijmegen breakage syndrome Other RecQ helicase Bloom syndrome Werner syndrome Rothmund–Thomson syndrome / Rapadilino syndrome Fanconi anemia Li-Fraumeni syndrome Severe combined immunodeficiency This dermatology article is a stub .
A number sign (#) is used with this entry because the clinical entity of de Sanctis-Cacchione syndrome can be displayed by patients with any of several different forms of xeroderma pigmentosum, although it is said to occur most often in those of complementation group A (XPA; 278700). De Sanctis-Cacchione syndrome has also been associated with mutation in the ERCC6 gene (609413); mutations in the same gene have been found to cause Cockayne syndrome type B (CSB; 133540). ... One of the patients with the latter syndrome developed acute lymphatic leukemia at the age of 3 years. ... Kanda et al. (1990) reported neuropathologic findings in 2 cases of XP group A with de Sanctis-Cacchione syndrome. Motor nerves, including those of the oculomotor system, were severely affected. ... By cell fusion complementation analysis, Itoh et al. (1996) found that these patients could be assigned to Cockayne syndrome complementation group B. Molecular Genetics In the patients reported by Greenhaw et al. (1992) with a clinical phenotype of de Sanctis-Cacchione syndrome and a biochemical profile of Cockayne syndrome type B, Colella et al. (2000) identified a homozygous mutation in the ERCC6 gene (609413.0002).
Not to be confused with Clerambault syndrome . Kandinsky–Clérambault syndrome Other names Syndrome of the psychic automatism Specialty Psychiatry The Kandinsky–Clérambault syndrome or syndrome of the psychic automatism is a psychopathological syndrome , considered to be a typical feature of paranoid schizophrenia and is characterized by pseudohallucinations , delusions of control, telepathy , thought broadcasting and thought insertion by an external force. [1] The syndrome also characterized by delusion of being controlled by a source outside himself. [2] The syndrome of Kandinsky–Clérambault is named after Victor Kandinsky and Gaëtan Gatian de Clérambault . ... The syndrome is also identified by Gaëtan Gatian de Clérambault (1872–1934), a French psychiatrist who credited with introducing the term "psychic automatism". The Kandinsky-Clérambault syndrome is not well known and it is used mainly by Russian, French and German psychiatrists. [3] References [ edit ] ^ Lavretsky, H. (1998). ... ISBN 978-0-8160-7508-9 . ^ Vladimir Lerner, Alexander Kaptsan & Eliezer Witztum (2003). "Kandinsky-Clérambault's Syndrome: concept of use for Western psychiatry". ... External links [ edit ] Kandinsky-Clérambault Syndrome: Narration and Psychosis The Misidentification of Clérambault's and Kandinsky–Clérambault's Syndromes This psychiatry -related article is a stub .
Young's syndrome Other names Azoospermia sinopulmonary infections Young's syndrome is inherited in an autosomal recessive manner Young's syndrome , also known as azoospermia sinopulmonary infections , sinusitis-infertility syndrome and Barry-Perkins-Young syndrome , is a rare condition that encompasses a combination of syndromes such as bronchiectasis , rhinosinusitis and reduced male fertility . [1] [2] [3] In individuals with this syndrome the functioning of the lungs is usually normal but the mucus is abnormally viscous. ... "Young's syndrome. Obstructive azoospermia and chronic sinopulmonary infections". ... Med . 310 (1): 3–9. doi : 10.1056/NEJM198401053100102 . PMID 6689737 . ^ Young syndrome at NIH 's Office of Rare Diseases ^ a b Young's syndrome - General Practice Notebook ^ Definition: Young syndrome from Online Medical Dictionary ^ Young, M (January 2003). ... PMC 1125087 . ^ Online Mendelian Inheritance in Man (OMIM): Young syndrome - 279000 Lau KY, Lieberman J (June 1986). "Young's syndrome. An association between male sterility and bronchiectasis" .
Handelsman et al. (1984) suggested that Young syndrome is as common as Klinefelter syndrome (actually they stated that in their experience it 'has at least twice the prevalence of Klinefelter's syndrome') and is therefore a common cause of both chronic sinopulmonary infection and azoospermia. ... Because of some similarities between Young syndrome, CF, and CBAVD, Friedman et al. (1995) evaluated 13 patients with Young syndrome, including screening for more than 30 different mutations within the CFTR gene. Only 1 of the 26 Young syndrome chromosomes carried a recognized CF mutation, delF508. ... They concluded that typical Young syndrome is not associated with CFTR mutations. ... In Young syndrome, no CF mutations were detected.
Young syndrome is a condition characterized by male infertility, damaged airways in the lungs ( bronchiectasis ), and inflammation of the sinuses ( sinusitis ). ... This results in nonexistent levels of sperm in semen. Young syndrome is typically diagnosed in middle-aged men who undergo evaluation for infertility. As the signs and symptoms of Young syndrome are similar to cystic fibrosis (CF), part of the diagnosis process may include ruling out CF. Although the exact cause of Young syndrome has not been identified, it is believed to either be related to childhood exposure to mercury or genetic factors. While there is no one treatment for Young syndrome, management involves treatment of sinus and lung infections.
Young syndrome is characterised by the association of obstructive azoospermia with recurrent sinobronchial infections. Epidemiology The prevalence is unknown but the syndrome is very rare. Clinical description Spermatogenesis is normal but azoospermia results from obstruction of the epididymides by thickened secretions. ... Despite similarities in symptoms between Young syndrome and cystic fibrosis (CF), several studies have shown that Young syndrome is not associated with mutations in the cystic fibrosis transmembrane regulator ( CFTR ) gene. Differential diagnosis The major differential diagnoses include CF and congenital bilateral absence of the vas deferens (CBAVD, see these terms), but sweat-gland and pancreatic function are normal. Genetic counseling The syndrome appears to be transmitted as an autosomal recessive trait.
Please help improve it to make it understandable to non-experts , without removing the technical details. ( July 2015 ) ( Learn how and when to remove this template message ) Opitz G/BBB syndrome Other names Hypertelorism-oesophageal abnormality-hypospadias syndrome Opitz G/BBB syndrome , also known as Opitz syndrome , G syndrome or BBB syndrome , is a rare genetic disorder that will affect physical structures along the midline of the body. [1] The letters G and BBB represent the last names of the families that were first diagnosed with the disorder, while Opitz is the last name of the doctor that first described the signs and symptoms of the disease. There are two different forms of Optiz G/BBB syndrome: x-linked (recessive) syndrome (Type I; XLOS; OSX) and dominant autosomal syndrome (Type II; ADOS). ... Some researchers consider Opitz G/BBB syndrome to be a type of 22q11.2 deletion syndrome (a slightly different and broader disease). ... A. (2015, March 17). Opitz GBBB Syndrome, Type II. (C. L. Kniffin, Ed.) ... Meroni, G. (2012, August). Opitz G/BBB syndrome. Meroni, G. (2011, July 28). X-Linked Opitz G/BBB Syndrome.
A rare X-linked congenital midline malformation syndrome characterized by hypertelorism, laryngo-tracheo-esophageal defects and hypospadias. Epidemiology The prevalence of X-linked Optiz GBBB syndrome (GBBB) ranges from 1/50,000 to 1/100,000. ... The original report described two distinct X-linked midline defects either with (G syndrome) or without (BBB syndrome) laryngeal malformations. ... Diagnosis is confirmed by identification of a MID1 mutation. Differential diagnosis SPECC1L syndrome (Teebi hypertelorism syndrome) is the main differential diagnosis of GBBB syndrome. ... Further nosologic confusion came from exceptional observation of ''BBBG-like'' phenotype in patients with 22q11.2 deletion syndrome. Baraitser-Winter cerebrofrontofacial syndrome (ACTB and ACTG1), craniofrontonasal dysplasia (EFNB1), frontonasal dysplasia and Aarskog syndrome (FGD1) share marked hypertelorism.
Offspring of an individual with Cohen syndrome are obligate heterozygotes (carriers). ... The cardiovascular system is not commonly affected in individuals with Cohen syndrome. An earlier report of mitral valve prolapse in individuals with Cohen-like syndrome of Ashkenazi Jewish ancestry [Sack & Friedman 1980] (see Differential Diagnosis) may be referring to another syndrome. ... The cause of the unusual cry in Cohen syndrome remains unknown, although laryngeal abnormalities postulated to cause the "mewing cry" seen in cri-du-chat syndrome have also been found in some individuals with Cohen syndrome [Chandler et al 2003a]. ... Individuals with Cohen syndrome are often suspected of having the following disorders: Cohen-like syndrome or "Jewish-type Cohen" was first reported in a cohort of individuals from Israel [Sack & Friedman 1986]. ... Cri-du-chat syndrome (OMIM 123450) is a multiple congenital anomaly syndrome involving microcephaly and a cat-like cry.
Cohen syndrome is a congenital (present since birth) condition that was first described in 1973 by Dr. ... Since Cohen syndrome was first described, over 100 cases have been reported worldwide. It is now known that the signs and symptoms present in people with Cohen syndrome may vary considerably. Although the exact cause of Cohen syndrome is unknown, some people with the condition have been found to have mutations in a gene called COH1 (also referred to as VPS13B ). When Cohen syndrome is found to be inherited in families, it follows an autosomal recessive pattern . No cure is currently available; however, treatment for Cohen syndrome is focused on improving or alleviating signs and symptoms as they arise.
Differential diagnosis Differential diagnoses include Bardet-Biedl syndrome, Prader-Willi syndrome, Cri-du-chat syndrome, Alström syndrome, Angelman syndrome, Williams syndrome, MORM syndrome and monosomy 1p36 (see these terms). Mirhosseini-Holmes-Walton syndrome is considered allelic to CS and is clinically indistinguishable.
Cohen syndrome is an inherited disorder that affects many parts of the body and is characterized by developmental delay, intellectual disability, small head size (microcephaly ), and weak muscle tone (hypotonia). ... The combination of the last two facial features results in an open mouth. The features of Cohen syndrome vary widely among affected individuals. ... Frequency The exact incidence of Cohen syndrome is unknown. It has been diagnosed in fewer than 1,000 people worldwide. ... However, it is not known how a lack of functional VPS13B protein or these cellular changes lead to the signs and symptoms of Cohen syndrome. Researchers speculate that problems with neuron development underlie microcephaly, intellectual disability, and retinal dystrophy and that abnormal fat storage may cause truncal obesity in people with Cohen syndrome. Learn more about the gene associated with Cohen syndrome VPS13B Inheritance Pattern This condition is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations.
Fuhrmann-Rieger et al. (1984) pointed out the similarities of the Prader-Willi syndrome (176270) and Cohen syndrome. (See also Fraccaro et al., 1983). ... They concurred with Norio and Raitta (1986) that the Mirhosseini-Holmes-Walton syndrome (268050) is the same as Cohen syndrome, or at least an allelic disorder. ... Schlichtemeier et al. (1994) suggested that vasculopathy may be an integral part of the Cohen syndrome. North et al. (1995) reported the cases of identical female twins with Cohen syndrome. ... This region overlapped the refined gene region for Cohen syndrome (Kolehmainen et al., 1997). Horn et al. (2000) hypothesized that the syndrome in their family, Cohen syndrome, and Mirhosseini-Holmes-Walton syndrome may be allelic. ... Nomenclature The preferred symbol for Cohen syndrome is COH1 because the symbol CHS1 had already been established for Chediak-Higashi syndrome (214500).
Risk factors Angelman syndrome is rare. Researchers usually don't know what causes the genetic changes that result in Angelman syndrome. Most people with Angelman syndrome don't have a family history of the disease. Occasionally, Angelman syndrome may be inherited from a parent. A family history of the disease may increase a baby's risk of developing Angelman syndrome. Complications Complications associated with Angelman syndrome include: Feeding difficulties. ... This genetic testing can identify abnormalities in your child's chromosomes that indicate Angelman syndrome. A combination of genetic tests can reveal the chromosome defects related to Angelman syndrome.
Angelman syndrome is a genetic disorder that primarily affects the nervous system. Characteristic features of this condition include developmental delay, intellectual disability, severe speech impairment, problems with movement and balance (ataxia), epilepsy, and a small head size . Individuals with Angelman syndrome typically have a happy, excitable demeanor with frequent smiling, laughter, and hand-flapping movements. Many of the characteristic features of Angelman syndrome result from the loss of function of a gene called UBE3A . Most cases of Angelman syndrome are not inherited, although in rare cases a genetic change responsible for Angelman syndrome can be inherited from a parent.
In addition, the chromosome 15q11-q13 duplication syndrome (608636) shows overlapping clinical features. Clayton-Smith and Pembrey (1992) provided a review of Angelman syndrome. Cassidy and Schwartz (1998) reviewed the molecular and clinical aspects of both Prader-Willi syndrome and Angelman syndrome. ... Single gene conditions include methylenetetrahydrofolate reductase deficiency (236250), Rett syndrome, alpha-thalassemia retardation syndrome (ATRX; 301040), and Gurrieri syndrome (601187). ... None of the typical features of Prader-Willi syndrome were present. Kaplan et al. (1987) also described deletion in 15q11-q12 in a child with Angelman syndrome. ... In all sibs affected by Angelman syndrome, an inherited imprinting center deletion had been identified.
Etiology Different genetic mechanisms may cause Angelman syndrome, such as deletion of the 15q11.2-q13 critical region (60-75%), paternal uniparental disomy (2-5%), imprinting defect (2-5%) and mutation in the UBE3A gene (10%). ... Differential diagnosis Differential diagnosis includes hypsarrhythmia in West syndrome or the petit mal variant pattern in Lennox-Gastaut syndrome (see these terms). Other differential diagnoses include Rett syndrome, Mowat-Wilson syndrome, X-linked alpha-thalassemia-intellectual deficit syndrome (ATR-X), and 22q13 deletion syndrome (see these terms).
AS is caused by disruption of maternally imprinted UBE3A located within the 15q11.2-q13 Angelman syndrome/Prader-Willi syndrome (AS/PWS) region. ... Diagnosis Consensus criteria for the clinical diagnosis of Angelman syndrome (AS) have been developed in conjunction with the Scientific Advisory Committee of the US Angelman Syndrome Foundation [Williams et al 2006]. ... Older girls with undiagnosed Rett syndrome may have features that resemble AS [Watson et al 2001]. Rett syndrome is an X-linked disorder caused by mutation of MECP2 . ... Facial features that differentiate Kleefstra syndrome from AS include synophrys and everted vermilion of the lower lip.
Angelman syndrome is a complex genetic disorder that primarily affects the nervous system. ... Causes Many of the characteristic features of Angelman syndrome result from the loss of function of a gene called UBE3A . ... In other cases (about 11 percent), Angelman syndrome is caused by a mutation in the maternal copy of the UBE3A gene. ... In some people who have Angelman syndrome, the loss of a gene called OCA2 is associated with light-colored hair and fair skin . ... Learn more about the genes and chromosome associated with Angelman syndrome OCA2 UBE3A chromosome 15 Inheritance Pattern Most cases of Angelman syndrome are not inherited, particularly those caused by a deletion in the maternal chromosome 15 or by paternal uniparental disomy .
Sjögren-Larsson syndrome is a condition characterized by dry, scaly skin (ichthyosis); neurological problems; and eye problems. ... People with Sjögren-Larsson syndrome have speech difficulties (dysarthria) and delayed speech. ... About one-half of people with Sjögren-Larsson syndrome require wheelchair assistance and many others need some form of support to walk. ... Frequency Sjögren-Larsson syndrome was first observed in Sweden, where the prevalence of this condition is 1 per 250,000 individuals. ... Causes Mutations in the ALDH3A2 gene cause Sjögren-Larsson syndrome. The ALDH3A2 gene provides instructions for making an enzyme called fatty aldehyde dehydrogenase (FALDH).
Rayner et al. (1978) described 2 brothers and a sister with a syndrome combining many of the features of the Sjogren-Larsson syndrome but possibly distinct. They reviewed the group of disorders sharing phenotypic features with the Sjogren-Larsson syndrome. This Sjogren syndrome is sometimes called the T. Sjogren syndrome to distinguish it from the sicca syndrome (see 200400, 270150), which was described by Henrick Sjogren, Swedish ophthalmologist born in 1899. ... Glistening spots in the ocular fundus were an obligatory and early sign in all 30 examined Swedish patients with Sjogren-Larsson syndrome (Jagell et al., 1980). In northern Norway, Gedde-Dahl et al. (1984) encountered a family in which 3 sibs had a form of ichthyosis very similar to that of the Sjogren-Larsson syndrome but with none of the associated neurologic features; see 270220. Willemsen et al. (2000) studied 15 patients with Sjogren-Larsson syndrome with proven fatty aldehyde dehydrogenase deficiency and found that all had juvenile macular dystrophy of the retina.
Epidemiology Prevalence is estimated at 1/250,000 worldwide, but the syndrome is more common in Sweden due to a founder effect. ... Once neurologic symptoms appear, the differential diagnosis includes other neuro-ichthyotic syndromes such as neutral lipid storage disease (Chanarin-Dorfman syndrome), ELOVL4 deficiency, multiple sulfatase deficiency and Refsum disease.
Sjogren-Larsson syndrome (SLS) is an inborn error of lipid metabolism , characterized by congenital ichthyosis (dry, scaly skin), intellectual disability, and spasticity (stiffness and involuntary muscle spasms). The syndrome is caused by mutations in the gene called FADH (fatty aldehyde dehydrogenase) and is inherited in an autosomal recessive fashion .
EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate). ... These cases correspond to the classical EEC syndrome (EEC type 3) and seem to present some degree of genotype-phenotype correlation. The other cases correspond to EEC syndrome type 1, which shows associated clinical features such as malformedauricles and middle and inner ear malformations, and was mapped to 7q21. EEC type 2 does not exist anymore. EEC syndrome is an autosomal dominant disorder with incomplete penetrance (between 93 and 98%) and variable expression. ... Due to germline mosaicism, unaffected parents of a child with EEC syndrome have a 4% risk of having another affected child.
EEC syndrome (Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate) is a rare form of ectodermal dysplasia . The symptoms can vary from mild to severe and most commonly include missing or irregular fingers and/or toes (ectrodactyly or split hand/foot malformation); abnormalities of the hair and glands; cleft lip and/or palate ; distinctive facial features; and abnormalities of the eyes and urinary tract. EEC syndrome can be divided into two different types defined by the underlying cause. More than 90% of individuals have EEC syndrome type 3 ( EEC3 ), caused by mutations in the TP63 gene. The of individuals with EEC syndrome are thought to have a mutation in a region on chromosome 7, known as EEC syndrome type 1 ( EEC1 ). EEC syndrome is inherited in an autosomal dominant manner.
Lown–Ganong–Levine syndrome Specialty Cardiology Symptoms Palpitations Diagnostic method Electrocardiogram , electrophysiological study Differential diagnosis Wolff-Parkinson-White syndrome Medication Medication, catheter ablation Lown–Ganong–Levine syndrome ( LGL ) is a pre-excitation syndrome of the heart. ... LGL can be distinguished from WPW syndrome because the delta waves seen in WPW syndrome are not seen in LGL syndrome. ... Lown–Ganong–Levine syndrome is a clinical diagnosis that came about before the advent of electrophysiology studies. ... Prognosis [ edit ] Individuals with LGL syndrome do not carry an increased risk of sudden death. ... "The syndrome of short P-R interval, normal QRS complex and paroxysmal rapid heart action" .
This condition may represent a variant of the Lown-Ganong-Levine syndrome; several affected relatives were described but not studied extensively in the original report (Lown et al., 1952). ... Two families with multiple generations affected by late-onset, chronic atrial fibrillation in the absence of organic heart disease may represent a related disorder (Gould, 1957; Phair, 1963). The Wolff-Parkinson-White syndrome (194200) is another syndrome of short PR interval with proneness to supraventricular tachycardia.