Predisposition to Green Nail Syndrome has also been linked to manicures, heat, dermatitis, ulcerations. ... Bacteria [ edit ] The bacteria "Pseudomonas Aeruginosa" which commonly causes Green Nail Syndrome Pseudomonas Aeruginosa [5] [6] species of bacteria are the most common causes of Green Nail Syndrome. ... "[Green nail syndrome or chloronychia]". Revue médicale de Liège (in French). 57 (4): 233–5. ... Retrieved 2020-06-03 . ^ a b c "Green Nail Syndrome - Skin Disorders" . MSD Manual Consumer Version . ... External links [ edit ] Green nail syndrome on American Osteopathic Association (AOCD) website
A number sign (#) is used with this entry because HID syndrome is caused by heterozygous mutation in the GJB2 gene (121011), which is also mutant in KID syndrome (148210), on chromosome 13q12. ... An important differential diagnosis of HID syndrome is KID syndrome (keratitis, ichthyosis-like hyperkeratosis, and deafness), of which both autosomal dominant (148210) and autosomal recessive (242150) forms may exist. KID syndrome does not represent a true form of ichthyosis, however, but rather a particular type of erythrokeratodermia and can be differentiated from the HID syndrome by a number of features. ... Molecular Genetics Because of similarities between HID syndrome and KID syndrome, which results from mutations in the connexin-26 gene (GJB2), van Geel et al. (2002) searched for mutations in the GJB2 gene in the first reported case of HID syndrome (Schnyder and Gloor, 1977; Gulzow and Anton-Lamprecht, 1977). ... Van Geel et al. (2002) concluded that KID syndrome and HID syndrome are identical at the molecular level and represent a single clinical entity.
Vohwinkel syndrome (124500) is an allelic disorder involving congenital deafness with keratopachydermia and constrictions of fingers and toes. ... See 242150 for a possible autosomal recessive form of KID syndrome. Clinical Features Grob et al. (1987) described KID syndrome in a father and daughter. ... Nyquist et al. (2007) described 2 young adults with KID syndrome who developed malignant proliferating pilar tumors of the scalp. ... In 3 Austrian patients with KID syndrome, Janecke et al. (2005) identified the D50N mutation in the GJB2 gene. ... Titeux et al. (2009) reported a Portuguese boy with KID syndrome who was heterozygous for the known D50N mutation in the GJB2 gene (121011.0020).
Senter syndrome Other names Desmons' syndrome [1] Specialty Dermatology Senter syndrome is a cutaneous condition characterized by similar skin changes and congenital hearing impairment to keratitis–ichthyosis–deafness syndrome , but is associated with glycogen storage leading to hepatomegaly, hepatic cirrhosis, growth failure and mental retardation. [2] See also [ edit ] HID syndrome List of cutaneous conditions References [ edit ] ^ Virginia P.
Molecular studies may resolve the question of the relationship between autosomal dominant and autosomal recessive KID syndrome. Jurecka et al. (1985) found epidermal glycogen deposition in a patient who may have represented the recessive form.
Hystrix-like ichthyosis–deafness syndrome Specialty Dermatology Hystrix-like ichthyosis–deafness syndrome (also known as "HID syndrome" [1] ) is a cutaneous condition characterized by a keratoderma . [1] See also [ edit ] KID syndrome List of cutaneous conditions References [ edit ] ^ a b Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007).
In infancy, the features of this condition are often known as Crisponi syndrome. Researchers originally thought that cold-induced sweating syndrome and Crisponi syndrome were separate disorders, but it is now widely believed that they represent the same condition at different times during life. ... Many of the health problems associated with Crisponi syndrome improve with time, and affected individuals who survive the newborn period go on to develop other features of cold-induced sweating syndrome in early childhood. ... Frequency Cold-induced sweating syndrome is a rare condition; its prevalence is unknown. ... Causes About 90 percent of cases of cold-induced sweating syndrome and Crisponi syndrome result from mutations in the CRLF1 gene. ... However, little is known about how CRLF1 or CLCF1 gene mutations underlie these other features of cold-induced sweating syndrome. Learn more about the genes associated with Cold-induced sweating syndrome CLCF1 CRLF1 Inheritance Pattern Cold-induced sweating syndrome is inherited in an autosomal recessive pattern , which means both copies of the CRLF1 or CLCF1 gene in each cell have mutations.
These features, referred to as 'Crisponi syndrome' in infancy, can result in early death without advanced care. ... Genetic Heterogeneity of Crisponi/Cold-Induced Sweating Syndrome Crisponi/cold-induced sweating syndrome-2 (CISS2; 610313), which is clinically indistinguishable from CISS1, is caused by mutation in the CLCF1 gene (607672) on chromosome 11q13. ... Accorsi et al. (2003) noted the phenotypic similarities to Freeman-Sheldon syndrome (193700) and Stuve-Wiedemann syndrome (601559). ... Nannenberg et al. (2005) noted the similarities to Stuve-Wiedemann syndrome, but concluded that Crisponi syndrome is a unique entity. ... Crisponi et al. (2007) noted that CRLF1 is involved in the pathogenesis of cold-induced sweating syndrome-1, which belongs to a group of conditions with overlapping phenotypes, including cold-induced sweating syndrome-2 (610313) and Stuve-Wiedemann syndrome (601559).
Cold-induced sweating syndrome (CISS) is characterized by profuse sweating (involving the chest, face, arms and trunk) induced by cold ambient temperature. ... In one Australian man with no family history, the syndrome was associated with mutations in the CLCF1 gene on chromosome 11q13.3 (CISS type 2).
HEC syndrome Other names Hydrocephalus-endocardial fibroelastosis-cataract syndrome HEC syndrome is a syndrome characterized by hydrocephalus , endocardial fibroelastosis and cataracts . [1] References [ edit ] ^ Devi A, Eisenfeld L, Uphoff D, Greenstein R (1995). "New syndrome of hydrocephalus, endocardial fibroelastosis, and cataracts (HEC syndrome)".
Devi et al. (1995) reported the cases of 2 unrelated male infants with similar findings of communicating hydrocephalus, endocardial fibroelastosis (EFE), and congenital cataracts. Both mothers reported an upper respiratory infection during the first trimester of pregnancy, which was further complicated by polyhydramnios in the third trimester. Bilateral congenital nuclear cataracts were present at birth. Serologic tests for toxoplasmosis, rubella, cytomegalovirus, herpes simplex virus, and syphilis, as well as galactosemia screen, were negative. Chromosome analyses were normal. Both children developed communicating hydrocephalus between 1 and 3 months after birth. Patient 1 died suddenly at 4 months of age following an upper respiratory infection.
Brown-Sequard syndrome is a rare neurological condition that results from an injury or damage to one side of the spinal cord . This condition results in weakness or paralysis on one side of the body (hemiparaplegia) and a loss of sensation on the opposite side (hemianesthesia). Brown-Sequard syndrome most commonly occurs in the the thoracic spine (upper and middle back). There are several causes of Brown-Sequard syndrome, including: a spinal cord tumor, trauma (such as a puncture wound to the neck or back), infectious or inflammatory diseases ( tuberculosis or multiple sclerosis ), and disk herniation .
Lamellar ichthyosis is a rare genetic condition that affects the skin. Infants affected by lamellar ichthyosis are generally born with a shiny, waxy layer of skin (called a collodian membrane) that is typically shed within the first two weeks of life. The skin beneath the collodian membrane is red and scaly. Other signs and symptoms of the condition may include ectropion , lips that turn outwards, hair loss, palmoplantar hyperkeratosis (thick skin on the palms of the hands and/or soles of the feet), nail abnormalities, dehydration and respiratory problems. Although the condition may be caused by changes (mutations) in one of several different genes, approximately 90% of cases are caused by mutations in the TGM1 gene. Lamellar ichthyosis is generally inherited in an autosomal recessive manner.
A number sign (#) is used with this entry because of evidence that autosomal recessive congenital ichthyosis-6 (ARCI6) is caused by homozygous or compound heterozygous mutation in the NIPAL4 gene (609383) on chromosome 5q33. Description Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by Fischer, 2009). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI.
Later in life, differential diagnosis includes syndromic forms of icthyosis, harlequin ichthyosis, lamellar ichthyosis, congenital reticular ichthyosiform erythroderma, and peeling skin syndrome (see these terms).
Description Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by Fischer, 2009). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes (Akiyama et al., 2003).
Radner et al. (2013) studied 4 patients from 3 consanguineous Tunisian families with features of Weill-Marchesani-like syndrome (613195), including short stature, brachydactyly with joint stiffness, microspherophakia, ectopia lentis, and mitral valve defects, who also exhibited collodion membrane at birth that evolved to generalized ichthyosis. ... Sequencing of the CERS3 gene in an unrelated Tunisian woman with isolated ichthyosis revealed a homozygous splice site mutation in the CERS3 gene (615276.0001), suggesting that the previously unreported skin phenotype in the patients with Weill-Marchesani-like syndrome was due to partial deletion of the CERS3 gene.
A number sign (#) is used with this entry because of evidence that autosomal recessive congenital ichthyosis-10 (ARCI10) is caused by homozygous or compound heterozygous mutation in the PNPLA1 gene (612121) on chromosome 6p21. Description Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by Fischer, 2009). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI.
Nonbullous congenital ichthyosiform erythroderma (NBCIE) is a specific type of ichthyosis mainly affecting the skin. Most infants with NBCIE are born with a tight, shiny covering on their skin, called a collodion membrane, which is typically shed within a few weeks. Other signs and symptoms include redness of the skin (erythroderma); fine, white scales on the skin; and thickening of the skin on the palms and soles of feet (palmoplantar keratoderma). Some people with NBCIE also have outward turning eyelids ( ectropion ); outward turning lips (eclabium); and nails that do not grow normally (nail dystrophy). NBCIE may be caused by mutations in any one of at least three genes: ALOX12B , ALOXE3 or NIPAL4 .
Talwar and Smith (1989) presented evidence that the CAMFAK syndrome is a neurologic disease characterized by peripheral and central demyelination similar to that seen in Cockayne syndrome (216400). ... Sugarman (1973) suggested that CAMAK syndrome might represent an early form of Cockayne syndrome. Winter (1989) felt almost certain that both CAMFAK and CAMAK syndromes represent early-onset Cockayne syndrome, with Pena-Shokeir syndrome type II (214150) as an alternative possibility. Czeizel and Lowry (1990) likewise agreed that the CAMAK and CAMFAK syndromes are the same. They described a brother and sister with cataracts, microcephaly, mental retardation, and changes in the hips resembling Perthes disease. Classic galactosemia and galactokinase deficiency (230200) were ruled out. Martsolf syndrome (212720) likewise combines cataract and mental retardation.
Unsourced material may be challenged and removed. Find sources: "CAMFAK syndrome" – news · newspapers · books · scholar · JSTOR ( April 2010 ) ( Learn how and when to remove this template message ) CAMFAK syndrome Other names Cataract-microcephaly-arthrogryposis-kyphosis syndrome, Cataract-microcephaly-failure to thrive-kyphoscoliosis syndrome CAMFAK syndrome has an autosomal recessive pattern of inheritance . CAMFAK syndrome (or CAMAK syndrome ) is an acronym used to describe a rare inherited neurologic disease, characterized by peripheral and central demyelination of nerves, similar to that seen in Cockayne syndrome . [1] The name "CAMFAK" comes from the first letters of the characteristic findings of the disease: ca taracts , m icrocephaly , fa ilure to thrive , and k yphoscoliosis . [2] The disease may occur with or without failure to thrive and arthrogryposis . ... Severe intellectual deficit and death within the first decade are typical. Genetics [ edit ] CAMFAK syndrome is inherited in an autosomal recessive manner. [2] This means the defective gene responsible for the disorder is located on an autosome , and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. ... You can help by adding to it . ( July 2017 ) References [ edit ] ^ Talwar D, Smith SA (October 1989). "CAMFAK syndrome: a demyelinating inherited disease similar to Cockayne syndrome". ... PMID 2554729 . ^ a b Online Mendelian Inheritance in Man (OMIM): 212540 External links [ edit ] Wiley InterScience Journal Classification D OMIM : 212540 MeSH : C566861 DiseasesDB : 33725 External resources Orphanet : 1317 v t e Multiple sclerosis and other demyelinating diseases of the central nervous system Signs and symptoms Ataxia Depression Diplopia Dysarthria Dysphagia Fatigue Incontinence Nystagmus Optic neuritis Pain Uhthoff's phenomenon Investigations and diagnosis Multiple sclerosis diagnosis McDonald criteria Poser criteria Clinical Clinically isolated syndrome Expanded Disability Status Scale Serological and CSF Oligoclonal bands Radiological Radiologically isolated syndrome Lesional demyelinations of the central nervous system Dawson's fingers Approved [ by whom?
SOX2 anophthalmia syndrome is a rare disorder characterized by abnormal development of the eyes and other parts of the body. People with SOX2 anophthalmia syndrome are usually born without eyeballs (anophthalmia), although some individuals have small eyes (microphthalmia). ... While both eyes are usually affected in SOX2 anophthalmia syndrome, one eye may be more affected than the other. ... About 10 percent to 15 percent of people with anophthalmia in both eyes have SOX2 anophthalmia syndrome. Causes Mutations in the SOX2 gene cause SOX2 anophthalmia syndrome. ... Abnormal development of these structures causes the signs and symptoms of SOX2 anophthalmia syndrome. Learn more about the gene associated with SOX2 anophthalmia syndrome SOX2 Inheritance Pattern SOX2 anophthalmia syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
Syndromic microphthalmia, type 3 is a rare condition that affects the eyes and other parts of the body. ... Both of these abnormalities can be associated with severe vision loss. Other signs and symptoms of syndromic microphthalmia, type 3 may include seizures, brain malformations, esophageal atresia , delayed motor development, learning disabilities, and sensorineural hearing loss.
A number sign (#) is used with this entry because of evidence that syndromic microphthalmia-3 (MCOPS3) is caused by heterozygous mutation in the SOX2 gene (184429) on chromosome 3q26. Description Syndromic microphthalmia-3 (MCOPS3) is characterized by clinical anophthalmia or microphthalmia with or without defects of the optic nerve, optic chiasm, and optic tract. ... Shah et al. (1997) suggested the name 'anophthalmia-esophageal-genital syndrome' (AEG syndrome) for this disorder. ... They stated that this was the seventh reported case of this syndrome and noted that all cases had been sporadic. ... Noting that multiple supernumerary teeth are rare and usually associated with congenital malformation syndromes, Numakura et al. (2010) concluded that the supernumerary teeth in this patient were likely to be a manifestation of the SOX2 anophthalmia syndrome.
A syndrome that belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula. ... Etiology Inheritance is autosomal dominant and the syndrome is caused by heterozygous mutations or deletions in the SOX2 gene (3q26.3-q27).
Frequency Recombinant 8 syndrome is a rare condition; its exact incidence is unknown. Most people with this condition are descended from a Hispanic population originating in the San Luis Valley area of southern Colorado and northern New Mexico. Recombinant 8 syndrome is also called San Luis Valley syndrome. ... The signs and symptoms of recombinant 8 syndrome are related to the loss and addition of genetic material on these regions of chromosome 8. ... Most people with recombinant 8 syndrome have at least one parent with a change in chromosome 8 called an inversion . ... People with this chromosome 8 inversion are at of risk having a child with recombinant 8 syndrome.
Recombinant 8 (rec(8)) syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 and is characterized by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism. Epidemiology The prevalence is unknown but the syndrome is rare. Rec(8) syndrome occurs typically in people with Hispanic ancestry from the Southwestern United States and is thought to be due to a single founder who emigrated from Spain to Colorado or New Mexico in the 17th or 18th century. ... Etiology Rec(8) syndrome is a complex chromosomal disorder, rec(8)dup(8q)inv(8)(p23.1q22.1) due to a parental pericentric inversion of chromosome 8 [inv(8)(p23.1q22.1)] with presumed constant breaking points in this Hispanic population and variants in other populations. ... Differential diagnosis Differential diagnoses include other chromosomal anomalies involving chromosome 8, Bardet-Biedl syndrome, Williams syndrome and Noonan syndrome (see these terms). ... Segregation analysis has ascertained a 6.2% risk for a carrier parent to have a child with rec(8) syndrome with the transmission rate being higher in carrier mothers (59%) than fathers (42%).
A number sign (#) is used with this entry because the syndrome is caused by a recombinant chromosome 8 characterized by duplication of 8q22.1-qter and deletion of 8pter-p23.1. ... This molecular mechanism was distinct from the usual mechanism of the pericentric inv(8) chromosome in San Luis Valley syndrome. Although the cytogenetics were slightly different, this patient had clinical features overlapping those reported in San Luis Valley syndrome, including a perimembranous ventricular septal defect with inlet extension, pulmonary valve stenosis, and a secundum-type atrial septal defect. ... Graw et al. (2000) cloned, sequenced, and characterized the 8p23.1 and 8q22 breakpoints from the inversion 8 chromosome associated with Rec8 syndrome. Analysis of the breakpoint regions showed that they are highly repetitive. ... Ethnohistorical data regarding the Spanish settlement of the southwest was consistent with a Spanish founder effect. The syndrome was estimated to be about 1.5 centuries old. Sujansky et al. (1993) studied 36 kindreds with rec(8) syndrome in the southwestern United States.
Recombinant chromosome 8 syndrome is a condition that involves heart and urinary tract abnormalities, moderate to severe intellectual disability, and a distinctive facial appearance. Many children with recombinant chromosome 8 syndrome do not survive past early childhood, usually due to complications related to their heart abnormalities. Most people with this condition are descended from a Hispanic population originating in the San Luis Valley area of southern Colorado and northern New Mexico. Recombinant chromosome 8 syndrome is caused by a rearrangement of chromosome 8 that results in a missing piece of the short (p) arm and an extra piece of the long (q) arm.
Emanuel syndrome is a chromosomal disorder that disrupts normal development and affects many parts of the body. Infants with Emanuel syndrome have weak muscle tone (hypotonia) and fail to gain weight and grow at the expected rate (failure to thrive). ... About half of all affected infants are born with an opening in the roof of the mouth (cleft palate ) or a high arched palate . Males with Emanuel syndrome often have genital abnormalities. ... As a result of the extra chromosome, people with Emanuel syndrome have three copies of some genes in each cell instead of the usual two copies. ... Learn more about the chromosomes associated with Emanuel syndrome chromosome 11 chromosome 22 Inheritance Pattern Almost everyone with Emanuel syndrome inherits the der(22) chromosome from an unaffected parent.
Congenital heart defects, seen in approximately 60% of individuals with Emanuel syndrome, contribute to morbidity and mortality. ... Development. All children with Emanuel syndrome have severe developmental delays. ... Differential Diagnosis Clinical features that overlap with Emanuel syndrome can be seen in the syndromes listed below. Chromosome analysis always confirms the diagnosis of Emanuel syndrome and rules out other diagnoses. Fryns syndrome Smith-Lemli-Opitz syndrome Pallister-Killian syndrome (OMIM 601803) Kabuki syndrome Wolf-Hirschhorn syndrome (OMIM 194190) Other chromosome abnormalities Management Evaluations Following Initial Diagnosis No current guidelines to evaluate the clinical manifestations that contribute to morbidity and mortality have been published.
A number sign (#) is used with this entry because Emanuel syndrome is caused by malsegregation of the t(11;22)(q23;q11.2) translocation, one of only a few recurrent non-Robertsonian constitutional translocations in humans (Fraccaro et al., 1980; Zackai and Emanuel, 1980). See also supernumerary der(22)t(8;22) syndrome (613700). Description Emanuel syndrome is characterized by multiple congenital anomalies, craniofacial dysmorphism, and significant developmental delay and mental retardation. ... Carriers of the balanced constitutional t(11;22) translocation are phenotypically normal but have a 10% risk of having progeny with supernumerary der(22)t(11;22) syndrome as a result of malsegregation of the der(22). ... Clinical Features Carter et al. (2009) reported questionnaire-based information on 63 individuals with Emanuel syndrome, ranging in age from newborn to adult. ... Somatic DNA from these and other normal individuals or from people with chromosomal breakage syndromes did not yield PCR junction fragments, indicating that this translocation originates during meiosis.
Emanuel syndrome is a constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting downslanting parebral fissures, deep set eyes, low hanging columnella and long philtrum), congenital heart defects and kidney abnormalities.
Emanuel syndrome Other names derivative 22 syndrome, der(22) syndrome Chromosome 11 (left) and 22 (right) are both involved in causing the syndrome, due to extra genetic material. Emanuel syndrome , also known as derivative 22 syndrome , or der(22) syndrome , is a rare disorder associated with multiple congenital anomalies , including profound intellectual disability , preauricular skin tags or pits, and conotruncal heart defects. [1] [2] It can occur in offspring of carriers of the constitutional chromosomal translocation t(11;22)(q23;q11), owing to a 3:1 meiotic malsegregation event resulting in partial trisomy of chromosomes 11 and 22 . ... Other features of Emanuel syndrome include an unusually small head ( microcephaly ), distinctive facial features and a small lower jaw ( micrognathia ). ... As a result of the extra chromosome, people with Emanuel syndrome have three copies of some genes in each cell instead of the usual two copies. ... PMID 20301440 . NBK1263. ^ "What is Emanuel Syndrome?" . www.emanuelsyndrome.org . Retrieved 2018-03-05 . ^ McDonald-McGinn DM, Hain HS, Emanuel BS, et al. (1993–2020). "22q11.2 Deletion Syndrome" .
Emanuel syndrome is a chromosomal disorder that is characterized by learning problems and stunted growth and development. The signs and symptoms are varied and may include decreased muscle tone (hypotonia) and developmental delay in childhood, intellectual disability severe, extremely small head ( microcephaly ), distinctive facial features, small jaw, ear anomalies, arched palate (roof of the mouth), cleft palate , heart defects , kidney malformations , and genital abnormalities (in males). Emanuel syndrome is caused by the presence of additional genetic material of the chromosomes 11 and 22 in each cell . ... Treatment depends on the signs and symptoms present in the individual. People with Emanuel syndrome are typically by a team of several specialists.
Kosaki Overgrowth Syndrome Kosaki overgrowth syndrome is inherited in an autosomal dominant manner. Kosaki overgrowth syndrome is a rare syndrome caused by mutations in the PDGFRB gene. [1] Contents 1 Presentation 2 Genetics 3 Treatment 4 History 5 References 6 External links Presentation [ edit ] The features of this syndrome affect the face, skin, brain and the body. [ citation needed ] Face: downslanting palpebral fissures pointed chin prominent forehead proptosis thin upper lip wide nasal bridge Skin: fragile hyperelastic Brain: Low IQ Periventricular white matter lesions Body: The height, lower-segment, hand, and foot length are all greater than usual. Genetics [ edit ] No inheritance pattern has been described as these mutations appear to have arisen de novo . This syndrome is due to mutations in a single copy of the PDGFRB gene. ... A further 24 cases were reported in 2017 by Gawliński et al . [4] References [ edit ] ^ "OMIM Entry - # 616592 - Kosaki Overgrowth Syndrome; KOGS" . omim.org . Retrieved 11 February 2018 . ^ Watanabe K, Okada E, Kosaki K, Tsuji T, Ishii K, Nakamura M, Chiba, K, Toyama Y, Matsumoto M (2011) Surgical treatment for scoliosis in patients with Shprintzen-Goldberg syndrome. J Pediat Orthop 31: 186-193 ^ Takenouchi T, Yamaguchi Y, Tanikawa A, Kosaki R, Okano H, Kosaki, K (2015) Novel overgrowth syndrome phenotype due to recurrent de novo PDGFRB mutation.
A number sign (#) is used with this entry because of evidence that Kosaki overgrowth syndrome (KOGS) is caused by heterozygous mutation in the PDGFRB gene (173410) on chromosome 5q32. Description Kosaki overgrowth syndrome is characterized by a facial gestalt involving prominent forehead, proptosis, downslanting palpebral fissures, wide nasal bridge, thin upper lip, and pointed chin. ... Clinical Features Takenouchi et al. (2015) described 2 unrelated Japanese girls with an overgrowth syndrome who exhibited strikingly similar facial features as well as hyperelastic, fragile skin, scoliosis, white matter lesions, and neurologic deterioration. ... The second girl, who had been reported by Watanabe et al. (2011) under a presumptive diagnosis of Shprintzen-Goldberg syndrome (see 182212) but who was negative for mutation in the SKI gene (164780), had normal psychomotor development in infancy and Stanford-Binet IQ of 73 at age 6 years, but her IQ was measured at less than 40 at age 13.
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by postnatal tall stature with long hands and feet, scoliosis, distinctive dysmorphic facial features (prominent forehead, proptosis, downslanting palpebral fissures, broad nasal bridge, thin upper lip, and pointed chin), hyperelastic, thin, and fragile skin, lipodystrophy, and variable intellectual disability and neurological deterioration.
This has led to the growing deprecation of the term 'retinoic acid syndrome' and to an increasing use of the term differentiation syndrome to signify this APML treatment complication. [2] Contents 1 Signs and symptoms 2 Causes 3 Treatment 4 See also 5 References Signs and symptoms [ edit ] The syndrome is characterized by dyspnea, fever, weight gain, hypotension, and pulmonary infiltrates. ... An elevated white count is sometimes associated with this syndrome, but is not always pathognomonic. ... Several causes have been speculated, including a capillary leak syndrome from cytokine release from the differentiating myeloid cells. ... "Differentiation (retinoic acid) syndrome" . Retrieved 10 March 2011 . ^ Tallman MS (February 2002). "Retinoic acid syndrome: a problem of the past?" . Leukemia . 16 (2): 160–1. doi : 10.1038/sj.leu.2402344 .
Bohring–Opitz syndrome Other names Oberklaid–Danks syndrome, C-like syndrome Specialty Medical genetics Bohring–Opitz syndrome ( BOS ) is a medical syndrome caused by a mutation in the ASXL1 gene. ... Diagnosis [ edit ] As some of these features are shared with other genetic syndromes , the diagnosis is made by genetic testing . [ citation needed ] Epidemiology [ edit ] The syndrome is extremely rare, with fewer than 80 reported cases worldwide. [ citation needed ] References [ edit ] ^ Hastings R; Cobben JM; Gillessen-Kaesbach G; et al. (2011). "Bohring–Opitz (Oberklaid–Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis" . ... PMID 21368916 . ^ Hoischen A; van Bon BW; Rodríguez-Santiago B; et al. (2011). " De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome". Nature Genetics . 43 (8): 729–731. doi : 10.1038/ng.868 . ... "Two novel patients with Bohring–Opitz syndrome caused by de novo ASXL1 mutations".
Bohring-Opitz syndrome is a rare condition that affects the development of many parts of the body. Most individuals with Bohring-Opitz syndrome have profound to severe intellectual disability, developmental delay, and seizures. ... Some individuals with Bohring-Opitz syndrome have poor growth before birth (intrauterine growth retardation). ... Some individuals with Bohring-Opitz syndrome do not survive past early childhood, while others live into adolescence or early adulthood. ... Learn more about the gene associated with Bohring-Opitz syndrome ASXL1 Inheritance Pattern Bohring-Opitz syndrome is considered an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
A number sign (#) is used with this entry because Bohring-Opitz syndrome, also known as C-like syndrome, is caused by de novo heterozygous mutation in the ASXL1 gene (612990) on chromosome 20q11. ... Clinical Features Bohring et al. (1999) presented 4 unrelated cases of a syndrome resembling Opitz trigonocephaly (C) syndrome (211750). ... Two other examples of this complication of the syndrome were included in their report. ... However, he lacked exophthalmos, which has been regarded as a hallmark of C-like syndrome. Osaki et al. (2006) suggested that the manifestations in this patient are an indication of overlap between C-like syndrome and C syndrome. In the patient reported by Osaki et al. (2006), Kaname et al. (2007) identified a heterozygous mutation in the CD96 gene (606037.0002), which is disrupted in C syndrome (211750). Kaname et al. (2007) noted that this patient had relatively severe features for C syndrome, but also stated that it was uncertain whether there is (1) a gradient of spectrum in the C syndrome, from the mild form (C syndrome) to the severe form (C-like syndrome), or (2) genetic heterogeneity among the patients with the C syndrome.
Genetic counseling. Bohring-Opitz syndrome (BOS) is typically the result of a de novo pathogenic variant in ASXL1 . ... It is unclear if these individuals have a different genetic syndrome with clinical features overlapping those of BOS. ... The phenotypic spectrum of C syndrome is not well defined, apart from the reportedly more common features. ... A Japanese individual with a clinical diagnosis of C syndrome had a chromosomal translocation that disrupted CD96 (also known as TACTILE ), and another Japanese individual with a clinical diagnosis of C syndrome had a heterozygous missense variant in CD96 [Kaname et al 2007]. However, these findings have not been replicated since 2007, so it remains unclear whether pathogenic variants in CD96 could result in C syndrome. More recently, compound heterozygous pathogenic variants in IFT140 were found in an individual with a clinical diagnosis of C syndrome – along with clinical features suggestive of a ciliopathy, which had not been previously reported in C syndrome [Peña-Padilla et al 2017].
Bohring-Opitz syndrome is a rare genetic condition characterized by intrauterine growth restriction (IUGR), failure to thrive , sleep apnea , developmental delay, hypotonia, flexion of the elbows and wrists, excessive hair growth, Wilm's tumor , microcephaly, brain malformations, and distinctive facial features. ... The inheritance of Bohring-Opitz syndrome remains unknown, as nearly all cases to date have occurred sporadically.
WikiProject Medicine may be able to help recruit an expert. ( March 2009 ) FACES syndrome Other names Friedman-Goodman syndrome FACES syndrome is a syndrome of unique f acial features, a norexia , c achexia , e ye and s kin anomalies. [1] It is a rare disease and estimated to occur in less than 1 in 1 million people. [2] References [ edit ] ^ Friedman E, Goodman RM (1984). "The "FACES" syndrome: a new syndrome with unique facies, anorexia, cachexia, and eye and skin lesions". ... "Orphanet: Facial dysmorphism anorexia cachexia eye and skin anomalies syndrome" . www.orpha.net . External links [ edit ] Classification D ICD - 10 : Q87.0 MeSH : C536384 External resources Orphanet : 1969 This article about a congenital malformation is a stub .
Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (mild eyelid ptosis, xanthelasma, anterverted nostrils, bifid nasal tip, short palate), severe muscle wasting and cachexia, retinitis pigmentosa, numerous lentigines and café-au-lait spots, as well as mild, soft tissue syndactyly.
FACES syndrome, also known as Friedman-Goodman syndrome, is a condition that is characterized by unique F acial features, A norexia , C achexia (body wasting) and E ye and S kin lesions. The pattern of inheritance and underlying genetic cause of FACES syndrome has not yet been established. FACES syndrome has only been reported in three members of the same family.
SAHA syndrome Other names Dermatological androgenization syndrome SAHA syndrome , is a medical syndrome characterized by s eborrhoea , a cne , h irsutism and a lopecia , and was first described in 1982. [1] It is frequently associated with polycystic ovary syndrome , cystic mastitis , obesity , and infertility . [2] [3] See also [ edit ] Hyperandrogenism HAIR-AN syndrome List of cutaneous conditions References [ edit ] ^ Jean L. ... ISBN 978-1-4160-2999-1 . ^ Orfanos CE, Adler YD, Zouboulis CC (2000). "The SAHA syndrome". Horm. Res . 54 (5–6): 251–8. doi : 10.1159/000053267 .
Daentl Townsend Siegel syndrome Other names Hydrocephalus-blue sclerae-nephropathy syndrome One of the symptoms, hydrocephalus , seen on a CT scan of the brain. Daentl Townsend Siegel syndrome is a very rare disorder characterized by blue sclerae , kidney malfunction, thin skin, and hydrocephalus . ... Daentl et al. in 1978. [1] Daentl Townsend Siegel syndrome is also known as "Hydrocephalus blue sclera nephropathy" and "Familial nephrosis, hydrocephalus, thin skin, blue sclerae syndrome". [2] References [ edit ] ^ "Familial nephrosis, hydrocephalus, thin skin, blue sclerae syndrome: clinical, structural and biochemical studies". Birth Defects Original Article Series . 14 (6B): 315–339. 1978. ^ "Daentl Towsend Siegel syndrome (Supplementary Concept)" . Medical Subject Headings .
Hydrocephalus-blue sclera-nephropathy syndrome is a rare, genetic, renal or urinary tract malformation syndrome characterized by nephrotic syndrome with focal segmental sclerosis associated with hydrocephalus, thin skin and blue sclerae.
Crandall syndrome Other names Alopecia-deafness-hypogonadism syndrome Crandall syndrome is inherited in an autosomal recessive manner Crandall syndrome is a very rare congenital disorder characterised by progressive sensorineural hearing loss , hair loss associated with pili torti , and hypogonadism demonstrated through low levels of luteinising hormone and growth hormone . It is thought to be an autosomal recessive disorder closely related to Björnstad syndrome which presents similarly but without hypogonadism. [1] The condition was first reported by B. ... Crandall in 1973. [2] References [ edit ] ^ "Orphanet: Crandall syndrome" . Retrieved 22 December 2016 . ^ Crandall BF, Samec L, Sparkes RS, Wright SW (1973). "A familial syndrome of deafness, alopecia, and hypogonadism".
Crandall syndrome is characterized by progressive sensorineural deafness, alopecia and hypogonadism with LH and GH deficiencies. It has been described in three brothers. It resembles Björnstad's syndrome (see this term) that combines irregular pili torti and deafness.
Weill-Marchesani syndrome is an inherited connective tissue disorder that mainly affects the bones and eyes. People with this syndrome are usually short in height and often have short fingers and limited joint movement, especially of the hands. Weill-Marchesani syndrome also causes problems with the lens of the eye that lead to severe nearsightedness, and it can also cause glaucoma. ... Occasionally patients with this syndrome have heart defects. In some families this syndrome is inherited in an autosomal recessive pattern and caused by mutations in the ADAMTS10 or LTBP2 genes. ... Treatments for Weill-Marchesani syndrome are symptomatic and supportive.
Summary Clinical characteristics. Weill-Marchesani syndrome (WMS) is a connective tissue disorder characterized by abnormalities of the lens of the eye, short stature, brachydactyly, joint stiffness, and cardiovascular defects. ... Nomenclature Other terms previously used to refer to Weill-Marchesani syndrome: Spherophakia-brachymorphia syndrome Mesodermal dysmorphodystrophy, congenital Prevalence WMS is described as being very rare. ... Acromelic Dysplasia The acromelic dysplasia group includes four rare disorders: Weill-Marchesani syndrome, geleophysic dysplasia, acromicric dysplasia, and Myhre syndrome. ... McInerney-Leo et al [2016] 2. All probands with Myhre syndrome reported to date have had a de novo SMAD4 pathogenic variant. ... Treatment of Manifestations in Individuals with Weill-Marchesani Syndrome (WMS) View in own window Manifestation/Concern Treatment Considerations/Other Ocular complications See above.
A number sign (#) is used with this entry because of evidence that Weill-Marchesani syndrome-3 (WMS3) is caused by homozygous mutation in the LTBP2 gene (602091) on chromosome 14q24. One such family has been reported. Description Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and lens abnormalities (Faivre et al., 2002). ... Clinical Features Haji-Seyed-Javadi et al. (2012) studied a large consanguineous Iranian family in which a brother and sister and their cousin had Weill-Marchesani syndrome, whereas 3 older sibs of the brother and sister displayed some features of WMS without meeting diagnostic criteria for the disorder. ... Haji-Seyed-Javadi et al. (2012) also identified heterozygosity for a nonsense mutation in LTBP2 in a proband with ectopia lentis associated with Marfan syndrome; the proband and his MFS-affected daughter, who did not carry the LTBP2 mutation, were both found to also carry a mutation in the FBN1 gene. ... Haji-Seyed-Javadi et al. (2012) concluded that the FBN1 mutation was highly likely to be the major cause of the ectopia lentis-Marfan syndrome phenotype in the pedigree, but that LTBP2 also contributed to disease status.
Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma. ... Electron microscopy and immunological studies of skin fibroblasts from WMS patients suggest that the syndrome is associated with impairment of the extracellular matrix.
A number sign (#) is used with this entry because Weill-Marchesani syndrome-1 (WMS1) is caused by homozygous or compound heterozygous mutation in the ADAMTS10 gene (608990) on chromosome 19p13. ... Genetic Heterogeneity of Weill-Marchesani Syndrome A phenotypically similar, autosomal dominant form of WMS (WMS2; 608328) is caused by mutation in the FBN1 gene (134797) on chromosome 15q21. ... Clinical Features Weill (1932) and Marchesani (1939) first described the syndrome. Meyer and Holstein (1941) described 4 affected sibs whose parents were related. ... Linkage analysis excluded 15q21.1 in the etiology of the syndrome. Faivre et al. (2002) performed a genomewide search in 2 large affected consanguineous families of Lebanese and Saudi origin consistent with autosomal recessive inheritance. ... In affected individuals from 2 consanguineous Saudi Arabian families with Weill-Marchesani syndrome, Morales et al. (2009) identified homozygosity for 2 different missense mutations in the ADAMTS10 gene (608990.0006 and 608990.0007, respectively).
People with Mabry syndrome have intellectual disability that is often moderate to severe. ... Hyperphosphatasia begins within the first year of life in people with Mabry syndrome. There are many different types of alkaline phosphatase found in tissues; the type that is increased in Mabry syndrome is called the tissue non-specific type and is found throughout the body. ... Hyperphosphatasia appears to cause no negative health effects, but this finding can help health professionals diagnose Mabry syndrome. Another common feature of Mabry syndrome is shortened bones at the ends of fingers (brachytelephalangy), which can be seen on x-ray imaging. ... The signs and symptoms of Mabry syndrome vary among affected individuals. ... PIGV gene mutations are the most frequent cause of Mabry syndrome, accounting for approximately half of all cases.