Lynch , Professor of Medicine at Creighton University Medical Center , characterized the syndrome in 1966. [49] In his earlier work, he described the disease entity as "cancer family syndrome." ... PMC 4091624 . PMID 19861671 . ^ a b c "Lynch Syndrome" . DynaMed . February 22, 2019 . ... "Universal Screening of Colorectal Cancers for Lynch Syndrome: Challenges and Opportunities". ... PMID 26028255 . ^ a b c Boland PM, Yurgelun MB, Boland CR (May 2018). "Recent progress in Lynch syndrome and other familial colorectal cancer syndromes" . ... Archived from the original on 2013-04-15. ^ "Lynch Syndrome UK" . Retrieved 31 March 2018 . ^ "Bowel Cancer UK: Lynch Syndrome" .
Clinical Features Barrow et al. (2008) analyzed the cumulative lifetime incidence of developing colorectal cancer by age 70 years in 121 families with genetically confirmed Lynch syndrome. Fifty-one families had MLH1 mutations, 59 had MSH2 (609309) mutations, and 11 had MSH6 (600678) mutations. ... Clyne et al. (2009) reported a Caucasian family with Lynch syndrome and some relatively unusual cancers associated with a heterozygous mutation in the MLH1 gene (G67E; 120436.0029). ... Mutations were identified in 8 of 14 Amsterdam criteria families and 5 of 19 remaining, 3 of whom had features of the Muir-Torre syndrome (158320). A high level of microsatellite instability (MSI) was detected in 16 of 18 colorectal cancers from individuals with MSH2 and MLH1 mutations and infrequently (1 of 21) in colorectal cancers from individuals without detectable mutations. ... Depending on the presence or absence of extracolonic tumors, HNPCC has been divided into Lynch syndrome I and Lynch syndrome II. Jager et al. (1997) reported studies based on the Danish HNPCC register comprising 28 families that fulfilled the Amsterdam criteria (Vasen et al., 1991): i.e., (1) families should exhibit 3 histologically verified cases of colorectal cancer, of which at least 1 should be diagnosed before the age of 50 years; (2) there should be affected individuals in 2 generations, and 1 of these individuals should be a first-degree relative to the other 2; and (3) familial adenomatous polyposis should be excluded. ... Van der Post et al. (2010) concluded that patients with Lynch syndrome, particularly those carrying MSH2 mutations, have an increased risk of urinary tract cancer, which may warrant surveillance.
Moreover, the age of onset should be less than 50 years in at least 1 patient. The Muir-Torre syndrome (MRTES; 158320) is a form of Lynch syndrome II associated with sebaceous skin tumors. ... There were no difference in 5-year survival by mutation or gender. Lynch Syndrome II Lynch et al. (1966) and Lynch and Krush (1967) suggested the existence of a syndrome, which they called the 'cancer-family syndrome,' characterized by autosomal dominant inheritance of endometrial carcinoma and adenocarcinoma of the colon, as well as multiple primary malignant neoplasms. ... Of the 188 males identified with Lynch syndrome, 11 were diagnosed with prostate cancer during the study period. ... In a useful illustration, he diagrammed the roles of allelic variation ('one gene - different syndromes') and genetic heterogeneity ('different genes - one syndrome') in inherited cancer syndromes. ... Germline PTEN (601728) mutations cause Cowdensyndrome (158350) a hamartoma-tumor syndrome with an increased risk of breast, thyroid, and endometrial cancers.
A cancer-predisposing condition characterized by the development of colorectal cancer not associated with colorectal polyposis, endometrial cancer, and various other cancers (such as malignant epithelial tumor of ovary, gastric, biliary tract, small bowel, and urinary tract cancer) that are frequently diagnosed at an early age.
A number sign (#) is used with this entry because hereditary nonpolyposis colorectal cancer-4 (HNPCC4) is caused by heterozygous mutation in the PMS2 gene (600259) on chromosome 7p22. Clinical Features Nicolaides et al. (1994) identified a germline deletion in the PMS2 gene in a patient with a family history of HNPCC. A second deletion was found in the patient's tumor sample. The tumor from this patient exhibited microsatellite instability. To examine the contribution of the PMS2 and EXO1 (606063) genes to the HNPCC disease phenotype, Thompson et al. (2004) studied 21 families negative for mutations in MSH2 (609309) and MLH1 (120436) that fulfilled the Amsterdam diagnostic criteria. They found that mutation in PMS2 accounts for only a small proportion of HNPCC families.
A rare inherited cancer-predisposing syndrome characterized by predisposition to a wide variety of cancers, including neoplasms of the digestive tract, urinary tract, kidney, endometrium, ovary, brain, and prostate, as well as sebaceous skin tumors, depending on the gene involved.
A number sign (#) is used with this entry because hereditary nonpolyposis colorectal cancer-7 (HNPCC7) is caused by mutation in the MLH3 gene (604395) on chromosome 14q24.3. For a phenotypic description and a discussion of genetic heterogeneity of hereditary nonpolyposis colorectal cancer, see HNPCC1 (120435). Molecular Genetics Liu et al. (2003) screened index patients from 70 families with colorectal cancer for germline mutations in the MLH3 gene. None of the families had classical or attenuated familial adenomatous polyposis. Liu et al. (2003) identified 1 frameshift mutation and 11 missense mutations in MLH3 in 16 of the 70 index patients (23%).
A number sign (#) is used with this entry because of evidence that hereditary nonpolyposis colorectal cancer-6 is caused by heterozygous mutation in the TGFBR2 gene (190182) on chromosome 3p22. For a phenotypic description and a discussion of genetic heterogeneity of hereditary nonpolyposis colorectal cancer (HNPCC), see HNPCC1 (120435). Clinical Features Among 5 HNPCC families without microsatellite instability, Lu et al. (1998) found a germline missense mutation in the TGFBR2 gene in 1 family. The proband and her 2 brothers had colorectal cancers complying with the clinical criteria A of HNPCC, but the onset of cancer was beyond 50 years of age in all cases (80 in the case of the proband and 65 and 60 in her 2 brothers, respectively), which did not satisfy the Amsterdam criteria. Unlike patients with typical HNPCC, affected members of this family lacked multiple synchronous, metachronous colorectal cancers and extracolonic cancers.
Description Hereditary nonpolyposis colorectal cancer type 5 is a cancer predisposition syndrome characterized by onset of colorectal cancer and/or extracolonic cancers, particularly endometrial cancer, usually in mid-adulthood.
In 4 Dutch and 2 Chinese families with Lynch syndrome (HNPCC), including the family studied by Chan et al. (2006) with heritable MSH2 promoter methylation, Ligtenberg et al. (2009) detected deletions of the 3-prime end of the EPCAM gene that led to inactivation of the adjacent MSH2 gene through methylation induction of its promoter in tissues expressing EPCAM. ... Methylation occurred only in tissues expressing EpCAM among which are the main target tissues in Lynch syndrome. Ligtenberg et al. (2009) concluded that based on their findings, transcriptional read-through due to deletion of polyadenylation signals may constitute a general mutational mechanism for the inactivation of neighboring genes. Kuiper et al. (2011) analyzed 45 Lynch syndrome families with EPCAM deletions, including 27 families ascertained through targeted genomic screens in cohorts of unexplained Lynch-like families and 18 previously studied families with known EPCAM deletions. ... Within the Netherlands and Germany, EPCAM deletions appeared to represent at least 2.8% and 1.1% of the confirmed Lynch syndrome families, respectively. Kuiper et al. (2011) concluded that 3-prime EPCAM deletions are a recurrent cause of Lynch syndrome and should be sought in routine Lynch syndrome diagnostic testing.
Congenital varicella syndrome is an extremely rare disorder in which affected infants have distinctive abnormalities at birth due to the mother's infection with chickenpox (maternal varicella zoster) early during pregnancy (i.e., up to 20 weeks gestation).
Good syndrome, also known as thymoma-immunodeficiency, is a very rare acquired immunodeficiency syndrome characterized by the association of thymoma and combined B-cell and T-cell immunodeficiency of adult onset with increased susceptibility to infections.
Find sources: "Thymoma with immunodeficiency" – news · newspapers · books · scholar · JSTOR ( July 2018 ) ( Learn how and when to remove this template message ) Thymoma with immunodeficiency Other names Good syndrome Thymoma with immunodeficiency (also known as "Good syndrome") is a rare disorder that occurs in adults in whom hypogammaglobulinemia , deficient cell-mediated immunity , and thymoma (usually benign) may develop almost simultaneously. [1] : 82 [2] Most reported cases are in Europe, though it occurs globally. [3] Dr. ... These T-lymphocytes then attack the B cell precursors in the marrow, preventing maturation and ultimately resulting in hypogammaglobulinemia. Good Syndrome is associated with other autoimmune conditions including pure red cell aplasia [6] and myasthenia gravis . [4] Pathogenesis [ edit ] The cause of Good Syndrome is unknown. ... "Thymoma with immunodeficiency (Good's syndrome): Review of the literature apropos three cases" . ... Clinical Immunology . 135 (3): 347–363. doi : 10.1016/j.clim.2010.01.006 . ^ a b c Kelleher, P; Misbah, S A (2003). "What is Good's syndrome? Immunological abnormalities in patients with thymoma" . Journal of Clinical Pathology . 56 : 12–16. doi : 10.1136/jcp.56.1.12 . ^ a b Jansen, Anne; van Deuren, Marcel; et al. (2016). "Prognosis of Good syndrome: mortality and morbidity of thymoma associated immunodeficiency in perspective" .
Good syndrome is a rare, adult-onset primary immunodeficiency suspected in patients who exhibit hypogammaglobulinemia and low levels of B cells along with a benign thymic tumor (thymoma) on chest X-ray. Symptoms include frequent opportunistic infections involving the sinuses and lungs, including severe CMV disease , P. carinii pneumonia , and mucocutaneous candidiasis . While the cause of Good syndrome remains unknown, there is some evidence that a defect of the bone marrow is involved.
Kohlschütter-Tönz syndrome (KTS) is a genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia.
A number sign (#) is used with this entry because Kohlschutter-Tonz syndrome (KTZS) is caused by homozygous or compound heterozygous mutation in the ROGDI gene (614574) on chromosome 16p13. ... Petermoller et al. (1993) described the Kohlschutter syndrome in a brother and sister. Musumeci et al. (1995) reported a brother and sister, born of consanguineous parents of Sicilian origin, with Kohlschutter syndrome. ... Haberlandt et al. (2006) reported an 11-year-old boy with Kohlschutter-Tonz syndrome with less severe neurologic involvement compared to other reported cases. ... Haberlandt et al. (2006) stated that 19 cases of the syndrome had been reported with clinical variability. ... Inheritance Reports of affected sibs and parental consanguinity indicate autosomal recessive inheritance of Kohlschutter-Tonz syndrome (Haberlandt et al., 2006). Mapping By linkage analysis of 5 families with Kohlschutter-Tonz syndrome, Lo (2009) found linkage to chromosome 16p13.3-p13.2 (maximum lod score of 3.05 at D16S423).
Kohlschütter-Tönz syndrome Other names Epilepsy-dementia-amelogenesis imperfecta syndrome Kohlschütter-Tönz syndrome is inherited via an autosomal recessive manner Specialty Neurology Kohlschütter-Tönz syndrome (KTS), also called Amelo-cerebro-hypohidrotic syndrome [1] is a rare inherited syndrome characterized by epilepsy , psychomotor delay or regression, intellectual disability , and yellow teeth caused by amelogenesis imperfecta (abnormal formation of tooth enamel). [2] It is a type A ectodermal dysplasia . [3] It is autosomal recessive and symptoms appear in early childhood. The syndrome was first described in 1974 by Alfried Kohlschütter and colleagues. [4] Only 24 affected individuals are known as of 2012. ... This mutation causes non-sense mediated decay of the mRNA. [6] Related Gene Mutations [ edit ] Due to the fact that not all 10 affected families were found to have a mutation in RODGI, and the noted variability between affected individuals, it is possible this syndrome is a contiguous gene syndrome. ... "Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome" . American Journal of Human Genetics . 90 (4): 701–707. doi : 10.1016/j.ajhg.2012.02.012 . ... "The genetic basis of inherited anomalies of the teeth. Part 2: Syndromes with significant dental involvement".
These cases were very similar to those of Curry et al. (1987), who referred to the condition as type II Smith-Lemli-Opitz syndrome (see 270400); the main difference was the lack of polydactyly in the patients reported by Greenberg et al. (1987). ... Noting the phenotypic similarity between genitopalatocardiac syndrome and the chromosome 10q26 deletion syndrome (609625), Golabi et al. (2009) suggested that the former might represent a phenocopy of the latter, or that a candidate region for genitopalatocardiac syndrome might reside on distal chromosome 10q.
Preus et al. (1983) described 2 sibs, born of consanguineous Italian parents, who had an oculocerebral hypopigmentation syndrome consisting of growth retardation, dolichocephaly, cataracts, highly arched palate, small and widely spaced teeth, generalized hypopigmentation, psychomotor retardation, and hypochromic anemia. Patton et al. (1987) concluded that this syndrome was distinct from the oculocerebral hypopigmentation syndrome described by Cross et al. (1967); see 257800.
Oculocerebral hypopigmentation syndrome, Preus type is a rare congenital syndrome characterized by skin and hair hypopigmentation, growth retardation, and intellectual deficit that are associated with a combination of various additional clinical anomalies such as ocular albinism, cataract, delayed neuropsychomotor development, sensorineural hearing loss, dolicocephaly, high arched palate, widely spaced teeth, anemia, and/or nystagmus.
IRVAN syndrome is an acronym for "idiopathic retinal vasculitis-aneurysms-neuroretinitis syndrome," a condition that primarily affects the eyes. ... The severity of the condition varies from person to person with some affected people experiencing a mild form that resolves on its own and others experiencing a severe form that may progress to vitreous hemorrhage (leakage of blood into the eye), vision loss and/or glaucoma. The underlying cause of IRVAN syndrome is currently unknown. Most cases occur sporadically in people with no family history of the condition.
A rare retinal vasculopathy disease characterized by idiopathic retinal vasculitis (IRV), aneurysmal dilations (A) at arteriolar bifurcations, and neuroretinitis (N), which if untreated progresses to peripheral capillary non-perfusion, retinal neovascularization, and macular exudation, leading to severe, bilateral vision loss.
A syndrome that is characterized by woolly hair, palmoplantar keratoderma and dilated cardiomyopathy principally affecting the left ventricle. ... The dilated cardiomyopathy may lead to life-threatening congestive heart failure. Etiology The syndrome is transmitted as an autosomal recessive trait and is caused by mutations in the DSP gene (6p24) encoding desmoplakin, a protein involved in cell adhesion. Differential diagnosis The syndrome is similar to Naxos disease (see this term).
A number sign (#) is used with this entry because of evidence that dilated cardiomyopathy with woolly hair, palmoplantar keratoderma, and tooth agenesis (DCWHKTA) is caused by heterozygous mutation in the desmoplakin gene (DSP; 125647). Carvajal syndrome (DCWHK; 605676), which has overlapping features but no abnormalities of dentition, is caused by homozygous mutation in DSP. ... Boyden et al. (2016) designated the phenotype 'erythrokeratodermia-cardiomyopathy (EKC)' syndrome. Molecular Genetics In a DNA sample from a girl who died at age 18 years with dilated cardiomyopathy, palmoplantar keratoderma, woolly hair, and tooth agenesis, Norgett et al. (2006) analyzed the candidate gene desmoplakin (DSP; 125647) and identified a heterozygous 30-bp insertion (125647.0015).
A number sign (#) is used with this entry because dilated cardiomyopathy with woolly hair and keratoderma (DCWHK) is caused by homozygous mutation in the DSP gene (125647), which encodes desmoplakin, on chromosome 6p24. Another syndrome involving cardiomyopathy, woolly hair, and keratoderma (Naxos disease; 601214) is caused by mutation in the plakoglobin gene (JUP; 173325). ... Rasmussen et al. (2013) studied a Turkish girl who presented at 8 years of age with congestive heart failure, woolly hair, and palmoplantar keratoderma, consistent with a diagnosis of Carvajal syndrome. Transthoracic echocardiogram showed biventricular dilation and a left ventricular ejection fraction of 15%, and she underwent cardiac transplantation at age 12 years. ... Her first-cousin parents and 2 sibs were unaffected. In a review of cardiocutaneous syndromes and arrhythmogenic cardiomyopathy, Sen-Chowdhry and McKenna (2014) stated that although the cardiac component of Carvajal syndrome was originally considered dilated cardiomyopathy, many of its features resemble those of arrhythmogenic cardiomyopathy (see 107970). ... A number of the patients with this syndromic disorder suffered heart failure in their teenage years, resulting in early morbidity. ... In a Turkish girl with Carvajal syndrome, Rasmussen et al. (2013) identified homozygosity for a 1-bp deletion in the DSP gene (125647.0014).
Vesiculopustular eruption and leukemoid reaction in Down syndrome Specialty Dermatology Vesiculopustular eruption and leukemoid reaction in Down syndrome is a cutaneous condition, an extensive neonatal vesiculopustular eruption seen in people with Down syndrome. [1] See also [ edit ] Adult T-cell leukemia/lymphoma List of cutaneous conditions References [ edit ] ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007).
Alezzandrini syndrome is a very rare syndrome characterized by retinitis pigmentosa (breakdown and loss of cells in the retina—which is the light sensitive tissue that lines the back of the eye), whitish patches in the skin ( vitiligo ) and whitening of eyebrow and eyelashes (poliosis) all on the same side of the face. It is very similar to Vogt-Koyanagi-Harada syndrome . Other reported signs and symptoms may include vision loss and retinal detachment , a patch of white hair in the scalp, a café-u-lait spot on the neck, and hearing loss, again, all on the same side as the affected eye.
Alezzandrini syndrome Specialty Dermatology Alezzandrini syndrome is a very rare syndrome characterized by a unilateral degenerative retinitis , followed after several months by ipsilateral vitiligo on the face and ipsilateral poliosis. [1] : 864 Deafness may also be present. [1] : 864 [2] See also [ edit ] List of cutaneous conditions Skin lesion References [ edit ] ^ a b James, William; Berger, Timothy; Elston, Dirk (2005).
16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism. ... Orofacial clefting, heart defects, short stature, feeding difficulties and hypotonia can be observed. Etiology This syndrome is caused by an interstitial deletion encompassing 16p11.2-p12.2.
A number sign (#) is used with this entry because it represents a contiguous gene deletion syndrome (chr16:21.4-29.3 Mb). Description The chromosome 16p12.2-p11.2 deletion syndrome is characterized phenotypically by dysmorphic facial features, feeding difficulties, recurrent ear infections, developmental delay, and cognitive impairment. ... They referred to the report of Hernando et al. (2002) and concluded that the common clinical features constituted a previously undescribed syndrome. Battaglia et al. (2009) reported an 8-year-old girl with developmental delay, poor speech, and mild dysmorphic features, including flat, hypotonic face, low-set, posteriorly rotated ears, high-arched palate, thin upper lip, and long, thin fingers. ... INHERITANCE - Isolated cases GROWTH Height - Short stature (in some patients) Other - Intrauterine growth retardation (in some patients) HEAD & NECK Face - Flat face - Long face - High forehead - Frontal bossing - Micrognathia Ears - Recurrent ear infections - Low-set ears - Posteriorly rotated ears - Hearing loss (uncommon) Eyes - Deep-set eyes - Epicanthal folds - Downslanting palpebral fissures - Small eyes Nose - Bulbous nose - Short nose Mouth - Open mouth - High-arched palate - Thin upper lip CARDIOVASCULAR Heart - Congenital cardiac defects (less common) ABDOMEN Gastrointestinal - Feeding difficulties SKELETAL Hands - Camptodactyly - Clinodactyly - Brachydactyly NEUROLOGIC Central Nervous System - Delayed psychomotor development - Mental retardation - Severe speech impairment - Hypotonia Behavioral Psychiatric Manifestations - No autism MISCELLANEOUS - Variable phenotype MOLECULAR BASIS - Contiguous gene syndrome caused by deletion of 7.1 to 8.7Mb of 16p12.2-p11.2 ▲ Close
Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner.
Clinical Features Cantu et al. (1981, 1985) reported a second Guadalajara camptodactyly syndrome; see 211910 for a description of type I. Two sisters, aged 6 and 3 years, presented the same intrauterine growth retardation-malformation syndrome characterized by low birthweight dwarfism and a variety of dysmorphic features including camptodactyly of all fingers, bilateral hallux valgus, short toes 2, 4 and 5, patella hypoplasia, short neck, low-set ears, microcephaly, cuboid vertebral bodies, and others.
Unsourced material may be challenged and removed. Find sources: "Fleischer's syndrome" – news · newspapers · books · scholar · JSTOR ( October 2016 ) ( Learn how and when to remove this template message ) Fleischer's syndrome Specialty Medical genetics Fleischer's syndrome is an extremely rare congenital anomaly characterized by displacement of the nipples , occasional polymastia , and hypoplasia of both kidneys . [1] References [ edit ] ^ Zink, Christoph (2011).
Hereditary site-specific ovarian cancer syndrome refers to ovarian cancer caused by germline mutations in various genes, usually associated with additional cancer risks. The most common are breast and ovarian cancer syndrome (HBOC) due to mutations in BRCA1 and BRCA2 genes and hereditary nonpolyposis colorectal cancer (HNPCC) due to mutations in DNA mismatch-repair genes. Mutations in STK11 gene, causing Peutz-Jeghers syndrome, are also associated with a risk of ovarian cancer (typically sex cord stromal tumors).
Vohwinkel syndrome is an inherited condition that affects the skin. People with the "classic form" generally have honeycomb-patterned calluses on the palms of the hands and the soles of the feet (palmoplantar keratoses); constricting bands of tissue on the fingers and toes which can cause amputation; starfish-shaped, thickened skin on the tops of the fingers and knees; and hearing loss. A "variant form" of Vohwinkel syndrome has also been identified which is characterized by ichthyosis in addition to the classic skin abnormalities and is not associated with hearing loss. Classic Vohwinkel syndrome is caused by changes (mutations) in the GJB2 gene and the variant form is caused by mutations in the LOR gene.
A number sign (#) is used with this entry because of evidence that Vohwinkel syndrome (VOWNKL) is caused by heterozygous mutation in the gene encoding connexin-26 (GJB2; 121011) on chromosome 13q12. Keratitis-ichthyosis-deafness syndrome (148210) is also caused by mutation in GJB2; another allelic disorder is palmoplantar keratoderma with deafness (148350). A variant form of Vohwinkel syndrome, mutilating keratoderma with ichthyosis (604117), is caused by mutation in the gene for loricrin (LOR; 152445) on chromosome 1q21. A form of mutilating palmoplantar keratoderma with periorificial keratotic plaques (Olmsted syndrome; 614594) is caused by mutation in the TRPV3 gene (607066) on chromosome 17p13.2. ... In a 38-year-old Zimbabwean man with severe Vohwinkel syndrome, de Zwart-Storm et al. (2011) analyzed the GJB2 gene and identified heterozygosity for a missense mutation (Y65H; 121011.0041).
Keratoderma hereditarium mutilans is a rare, diffuse, mutilating, hereditary palmoplantar keratoderma disorder characterized by severe, honeycomb-pattern palmoplantar keratosis and pseudoainhum of the digits leading to autoamputation, associated with mild to moderate congenital sensorineural hearing loss. Additional features include stellate keratosis on the extensor surfaces of the fingers, feet, elbows and knees. Alopecia, onychogryphosis, nail dystrophy or clubbing, spastic paraplegia and myopathy may also be associated.
Vohwinkel syndrome is a disorder with classic and variant forms, both of which affect the skin. In the classic form of Vohwinkel syndrome, affected individuals have thick, honeycomb-like calluses on the palms of the hands and soles of the feet (palmoplantar keratoses) beginning in infancy or early childhood. ... This membrane is usually shed during the first few weeks of life. Frequency Vohwinkel syndrome is a rare disorder; about 50 cases have been reported in the medical literature. Causes The classic form of Vohwinkel syndrome is caused by mutations in the GJB2 gene. ... The GJB2 gene mutations that cause Vohwinkel syndrome change single protein building blocks (amino acids) in connexin 26.
An X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies). Epidemiology Prevalence is unknown but since its initial description in 1980 several unrelated families with affected males have been reported. Clinical description The syndrome is characterised by facial dysmorphism (a flat and broad nasal bridge, prominent forehead, upslanting palpebral fissures, hypertelorism and various ear anomalies), growth failure, sensorineural deafness, microgenitalism and severe intellectual deficit. Etiology The syndrome is caused by mutations in the ATRX gene (Xq13.3).
Human HOXA1 syndromes are very rare disorders present at birth mainly affecting the development of the ears, eyes, and cardiovascular system. The main symptoms include inability to move the eyes to the sides (horizontal gaze paralysis), deafness, and birth defects involving blood flow in and out of the heart. Human HOXA1 syndromes have been described in Native American populations (primarily the Navajo and Apache Indians) and in a few Saudi Arabian and Turkish families. Symptoms may vary by population. Human HOXA1 syndromes are caused by genetic changes ( DNA variants ) in the HOXA1 gene and inherited in an autosomal recessive pattern.
A rare, genetic, neurological disorder characterized by horizontal gaze palsy, sensorineural deafness, central hypoventilation, developmental delay, and intellectual disability, described in persons of Athabascan American Indian heritage. Swallowing dysfunction, vocal cord paralysis, facial paresis, seizures, internal carotid artery, and cardiac outflow tract anomalies may be additionally observed. No dysmorphic facial features are associated.
Van den Ende Gupta syndrome is present at birth and affects the facial features and skeletal system. Symptoms of Van den Ende Gupta syndrome include underdeveloped eyelids and jaw bones; long and bent fingers; cleft palate; and other bone abnormalities. ... Very little is known about how this condition changes over time. Van den Ende Gupta syndrome is caused by a SCARF2 gene that is not working correctly.
A number sign (#) is used with this entry because of evidence that van den Ende-Gupta syndrome (VDEGS) is caused by homozygous mutation in the SCARF2 gene (613619) on chromosome 22q11. ... Intelligence was normal, and overall prognosis in the syndrome seemed good. Gupta et al. (1995) suggested that their patient and the patient described by van den Ende et al. (1992) had a 'new' autosomal recessive syndrome, which was not accurately represented clinically by the designation 'Marden-Walker-like syndrome without psychomotor retardation.' ... Schweitzer et al. (2003) reviewed the report by Bistritzer et al. (1993) and concluded that the girls were the fourth reported cases of what they termed van den Ende-Gupta syndrome (VDEGS). In the fifth report of this syndrome, Schweitzer et al. (2003) described 2 Hispanic brothers, born to unrelated parents. ... Similarities of VDEGS to Marden-Walker syndrome include blepharophimosis, arachnodactyly, and congenital contractures, as well as autosomal recessive inheritance. ... Inheritance Anastasio et al. (2010) confirmed autosomal recessive inheritance of van den Ende-Gupta syndrome by the identification of homozygous mutations in patients with the disorder.
Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features.
Acral peeling skin syndrome is a genetic skin disorder characterized by painless peeling of the top layer of skin. ... The peeling is usually present from birth, but can appear later in childhood or early adulthood. Acral peeling skin syndrome can be caused by mutations in the TGM5 gene. ... There is no cure for acral peeling skin syndrome. Treatment is aimed at treating the symptoms present in each individual.
A number sign (#) is used with this entry because of evidence that peeling skin syndrome-2 (PSS2), an acral form of the disorder, is caused by homozygous or compound heterozygous mutation in the TGM5 gene (603805) on chromosome 15q15. Description Peeling skin syndrome (PSS) is an autosomal recessive genodermatosis characterized by the shedding of the outer epidermis. ... For a discussion of genetic heterogeneity of peeling skin syndrome, see PSS1 (270300). Clinical Features Cassidy et al. (2005) described 2 families, 1 Dutch and 1 Scottish, with noninflammatory acral peeling skin syndrome in which peeling was accompanied by erythema. ... Histologic and ultrastructural analyses of cases of the peeling skin syndrome demonstrated that the level of blistering is high in the epidermis, at the junction of the stratum granulosum (the last living layer) and the stratum corneum (the terminally differentiated and continuously shed, cornified squamous layers). ... Mapping By genomewide linkage analysis in a consanguineous Dutch kindred, Cassidy et al. (2005) mapped a gene for an acral form of peeling skin syndrome to chromosome 15q15.2, in the interval between markers D15S1040 and D15S1016.
Acral peeling skin syndrome is a skin disorder characterized by painless peeling of the top layer of skin. ... The underlying skin may be temporarily red and itchy, but it typically heals without scarring. Acral peeling skin syndrome is not associated with any other health problems. Frequency Acral peeling skin syndrome is a rare condition, with several dozen cases reported in the medical literature. However, because its signs and symptoms tend to be mild and similar to those of other skin disorders, the condition is likely underdiagnosed. Causes Acral peeling skin syndrome is caused by mutations in the TGM5 gene. ... Learn more about the gene associated with Acral peeling skin syndrome TGM5 Inheritance Pattern This condition is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations.