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N Syndrome
Omim
Hess et al. (1974) described what at first appeared to be a relatively nondescript mental retardation syndrome in 2 brothers. Features included visual impairment, deafness, laterally overlapping upper eyelids, large corneas, abnormal auricles, cryptorchidism, hypospadias and spasticity. ... At the time of the report, 1 of the brothers had died at the age of 5.5 years of lymphoblastic leukemia with a mediastinal mass. The features of the syndrome and its possible genetics were expanded by the follow-up given by Hess et al. (1987). The mother of the propositi, a woman who had none of the manifestations of the syndrome, died at age 37, reportedly of leukemia. ... Hess et al. (1987) suggested that the N syndrome is X-linked recessive. Floy et al. (1990) found that bleomycin, which is known to break double-stranded DNA, produced increased chromosome breakage in normal control, Fanconi anemia, and N syndrome fibroblasts. When aphidicolin was used to inhibit repair mediated by DNA polymerase alpha (312040), both normal control and Fanconi anemia fibroblasts showed significantly more chromosome breakage than was produced by bleomycin alone, but there was no increase in the amount of breakage seen in the N syndrome fibroblasts over that seen with bleomycin alone.
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Alwadei Syndrome
Wikipedia
Alwadei Syndrome Other names Autosomal recessive mental retardation-61, Mental retardation, autosomal recessive 61, MRT61 Alwadei Syndrome have an autosomal recessive pattern of inheritance Specialty Neurology Alwadei Syndrome or Autosomal recessive mental retardation-61 (MRT61) is an autosomal recessive neurodevelopmental disorder characterized by delayed psychomotor development , intellectual disability , and variable abnormal facial features . [1] [2] [3] Severe patients may develop refractory seizures and have brain abnormalities, including hypoplasia of the corpus callosum . [3] Alwadei Syndrome attributed to mutation in RUSC2 gene on chromosome 9p13.3. [2] It was first described at King Fahd Medical City by the pediatric neurologist Ali Alwadei in 2014. The syndrome was recognized and published in medical journal Developmental Medicine & Child Neurology in 2016. [3] In 2017, Johns Hopkins University named the syndrome as "Alwadei Syndrome".
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Ayazi Syndrome
Wikipedia
Ayazi syndrome Other names Choroideremia-deafness-obesity syndrome This condition is inherited in an X-linked recessive manner Ayazi syndrome (or Chromosome 21 Xq21 deletion syndrome ) [1] is a syndrome characterized by choroideremia , congenital deafness and obesity . Contents 1 Signs and symptoms 2 Genetics 3 Diagnosis 4 Treatment 5 References 6 External links Signs and symptoms [ edit ] Mental retardation Deafness at birth Obesity Choroideremia Impaired vision Progressive degeneration of the choroid Genetics [ edit ] Ayazi syndrome's inheritance pattern is described as x-linked recessive . ... "Choroideremia and deafness with stapes fixation: a contiguous gene deletion syndrome in Xq21" . Am J Hum Genet . 45 (4): 530–540.
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Hypergonadism
Wikipedia
See also [ edit ] Hypergonadotropic hypergonadism Hyperandrogenism and hyperestrogenism Hypothalamus , pituitary gland , and HPG axis GnRH and gonadotropins ( FSH and LH ) Hypogonadism ( hypoandrogenism and hypoestrogenism ) References [ edit ] v t e Gonadal disorder Ovarian Polycystic ovary syndrome Premature ovarian failure Estrogen insensitivity syndrome Hyperthecosis Testicular Enzymatic 5α-reductase deficiency 17β-hydroxysteroid dehydrogenase deficiency aromatase excess syndrome Androgen receptor Androgen insensitivity syndrome Familial male-limited precocious puberty Partial androgen insensitivity syndrome Other Sertoli cell-only syndrome General Hypogonadism Delayed puberty Hypergonadism Precocious puberty Hypoandrogenism Hypoestrogenism Hyperandrogenism Hyperestrogenism Postorgasmic illness syndrome Cytochrome P450 oxidoreductase deficiency Cytochrome b5 deficiency Androgen-dependent condition Aromatase deficiency Complete androgen insensitivity syndrome Mild androgen insensitivity syndrome Hypergonadotropic hypogonadism Hypogonadotropic hypogonadism Fertile eunuch syndrome Estrogen-dependent condition Premature thelarche Gonadotropin insensitivity Hypergonadotropic hypergonadism This article about an endocrine, nutritional, or metabolic disease is a stub .
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Microcephaly Albinism Digital Anomalies Syndrome
Wikipedia
X-ray of a patient with microcephaly albinisim digital anomalies syndrome. [1] Microcephaly albinism digital anomalies syndrome is a very rare congenital genetic disease . The syndrome includes microcephaly , micrognathia , oculocutaneous albinism , hypoplasia of the distal phalanx of fingers , and agenesia of the distal end of the right big toe . [2] Contents 1 Symptoms and signs 2 Genetics 3 Diagnosis 4 References Symptoms and signs [ edit ] Microcephaly albinism digital anomalies syndrome's symptoms may vary from individual to individual, however there are many common symptoms, associated with this rare genetic disease. ... You can help by adding to it . ( September 2020 ) References [ edit ] ^ "Microcephaly albinism digital anomalies syndrome | Semantic Scholar" . www.semanticscholar.org . Retrieved 2020-05-30 . ^ a b "Microcephaly-albinism-digital anomalies syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" . rarediseases.info.nih.gov . ... "Oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies: A new autosomal recessive syndrome?". American Journal of Medical Genetics . 50 (3): 224–227. doi : 10.1002/ajmg.1320500303 .
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Lemierre Syndrome
Gard
Lemierre syndrome is a rare and potentially life-threatening complication of bacterial infections that usually affects previously-healthy adolescents and young adults. ... The bacteria typically responsible for infection in Lemierre syndrome is Fusobacterium necrophorum , although a variety of bacteria can be responsible. ... This can lead to life-threatening complications such as respiratory distress syndrome due to pulmonary emboli (blood clots in the lung), damage to other affected organs, and/or septic shock (in about 7% of cases). Lemierre syndrome may be diagnosed based on signs and symptoms, various blood tests, and imaging studies. ... The long-term outlook and chance of survival in people with Lemierre syndrome varies depending on how much the syndrome progresses, but even with appropriate treatment, it is fatal in some cases.
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Congenital Insensitivity To Pain With Anhidrosis
Wikipedia
Cite journal requires |journal= ( help ) Classification D OMIM : 256800 MeSH : D009477 DiseasesDB : 32097 External resources Orphanet : 642 v t e Diseases of the autonomic nervous system General Dysautonomia Autonomic dysreflexia Autonomic neuropathy Pure autonomic failure Hereditary Hereditary sensory and autonomic neuropathy Familial dysautonomia Congenital insensitivity to pain with anhidrosis Orthostatic intolerance Orthostatic hypotension Postural orthostatic tachycardia syndrome Other Horner's syndrome Multiple system atrophy v t e Cell surface receptor deficiencies G protein-coupled receptor (including hormone ) Class A TSHR ( Congenital hypothyroidism 1 ) LHCGR ( Luteinizing hormone insensitivity , Leydig cell hypoplasia , Male-limited precocious puberty ) FSHR ( Follicle-stimulating hormone insensitivity , XX gonadal dysgenesis ) GnRHR ( Gonadotropin-releasing hormone insensitivity ) EDNRB ( ABCD syndrome , Waardenburg syndrome 4a , Hirschsprung's disease 2 ) AVPR2 ( Nephrogenic diabetes insipidus 1 ) PTGER2 ( Aspirin-induced asthma ) Class B PTH1R ( Jansen's metaphyseal chondrodysplasia ) Class C CASR ( Familial hypocalciuric hypercalcemia ) Class F FZD4 ( Familial exudative vitreoretinopathy 1 ) Enzyme-linked receptor (including growth factor ) RTK ROR2 ( Robinow syndrome ) FGFR1 ( Pfeiffer syndrome , KAL2 Kallmann syndrome ) FGFR2 ( Apert syndrome , Antley–Bixler syndrome , Pfeiffer syndrome , Crouzon syndrome , Jackson–Weiss syndrome ) FGFR3 ( Achondroplasia , Hypochondroplasia , Thanatophoric dysplasia , Muenke syndrome ) INSR ( Donohue syndrome Rabson–Mendenhall syndrome ) NTRK1 ( Congenital insensitivity to pain with anhidrosis ) KIT ( KIT Piebaldism , Gastrointestinal stromal tumor ) STPK AMHR2 ( Persistent Müllerian duct syndrome II ) TGF beta receptors : Endoglin / Alk-1 / SMAD4 ( Hereditary hemorrhagic telangiectasia ) TGFBR1 / TGFBR2 ( Loeys–Dietz syndrome ) GC GUCY2D ( Leber's congenital amaurosis 1 ) JAK-STAT Type I cytokine receptor : GH ( Laron syndrome ) CSF2RA ( Surfactant metabolism dysfunction 4 ) MPL ( Congenital amegakaryocytic thrombocytopenia ) TNF receptor TNFRSF1A ( TNF receptor associated periodic syndrome ) TNFRSF13B ( Selective immunoglobulin A deficiency 2 ) TNFRSF5 ( Hyper-IgM syndrome type 3 ) TNFRSF13C ( CVID4 ) TNFRSF13B ( CVID2 ) TNFRSF6 ( Autoimmune lymphoproliferative syndrome 1A ) Lipid receptor LRP : LRP2 ( Donnai–Barrow syndrome ) LRP4 ( Cenani–Lenz syndactylism ) LRP5 ( Worth syndrome , Familial exudative vitreoretinopathy 4 , Osteopetrosis 1 ) LDLR ( LDLR Familial hypercholesterolemia ) Other/ungrouped Immunoglobulin superfamily : AGM3, 6 Integrin : LAD1 Glanzmann's thrombasthenia Junctional epidermolysis bullosa with pyloric atresia EDAR ( EDAR hypohidrotic ectodermal dysplasia ) PTCH1 ( Nevoid basal-cell carcinoma syndrome ) BMPR1A ( BMPR1A juvenile polyposis syndrome ) IL2RG ( X-linked severe combined immunodeficiency ) See also cell surface receptors v t e Pain By region/system Head and neck Headache Neck Odynophagia (swallowing) Toothache Respiratory system Sore throat Pleurodynia Musculoskeletal Arthralgia (joint) Bone pain Myalgia (muscle) Acute Delayed-onset Neurologic Neuralgia Pain asymbolia Pain disorder Paroxysmal extreme pain disorder Allodynia Chronic pain Hyperalgesia Hypoalgesia Hyperpathia Phantom pain Referred pain Congenital insensitivity to pain congenital insensitivity to pain with anhidrosis congenital insensitivity to pain with partial anhidrosis Other Pelvic pain Proctalgia Back Low back pain Measurement and testing Pain scale Cold pressor test Dolorimeter Grimace scale (animals) Hot plate test Tail flick test Visual analogue scale Pathophysiology Nociception Anterolateral system Posteromarginal nucleus Substance P Management Analgesia Anesthesia Cordotomy Pain eradication Related concepts Pain threshold Pain tolerance Suffering SOCRATES Philosophy of pain Cancer pain Drug-seeking behavior
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Culture-Bound Syndrome
Wikipedia
Some culture-bound syndromes appear with similar features in several cultures, but with locally specific traits, such as penis panics . ... S2CID 144358885 . ^ Banks, Caroline Giles (April 1992). " ' Culture' in culture-bound syndromes: The case of anorexia nervosa". ... "Pathophysiology of premenstrual syndrome and premenstrual dysphoric disorder". ... (September 1987). "Premenstrual syndrome as a western culture-specific disorder". ... External links [ edit ] Psychiatric Times – Introduction to Culture-Bound Syndromes ( registration required ) Skeptical Inquirer – Culture-bound syndromes as fakery
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Feline Hyperesthesia Syndrome
Wikipedia
Collection of OCD or epilepsy-like symptoms in housecats Feline hyperesthesia syndrome Other names "Feline hyperaesthesia syndrome", "apparent neuritis", "atypical neurodermatitis", "psychomotor epilepsy", "pruritic dermatitis of Siamese", "rolling skin syndrome", and "twitchy cat disease". ... Tuttle in a scientific article, feline hyperesthesia syndrome is a complex and poorly understood syndrome that can affect domestic cats of any age, breed , and sex . [1] [2] [3] [4] [5] The syndrome may also be referred to as feline hyperaesthesia syndrome, apparent neuritis, atypical neurodermatitis, psychomotor epilepsy, pruritic dermatitis of Siamese , rolling skin syndrome, and twitchy cat disease. [2] [4] [6] [7] The syndrome usually appears in cats after they've reached maturity , with most cases first arising in cats between one and five years old. [1] [2] [4] The condition is most commonly identified by frantic scratching, biting or grooming of the lumbar area, generally at the base of the tail, and a rippling or rolling of the dorsal (anatomy) lumbar skin. [1] [2] [3] [4] [5] [6] [7] [8] These clinical signs usually appear in a distinct episode, with cats returning to normal afterwards. ... This suggests that the rolling of the skin is not a direct sign of the syndrome, but a sign of excessive scratching or grooming. It has been noted, however, that the rolling of the skin, among other clinical signs, can occur spontaneously, whether this is a direct result of the syndrome or a result of muscle memory being activated by sensations caused by the syndrome has yet to be determined. [1] Cause [ edit ] The causes of feline hyperesthesia syndrome are highly disputed, largely due to the unknown pathophysiology of the syndrome and the variation in responses to different treatment methods. [1] [3] [4] [8] There are three main theories on the cause of the syndrome, as outlined below: The first theory suggests feline hyperesthesia syndrome is a behavioural disorder , which is caused by either behavioural displacement or stress factors. ... Wherever possible, cases of feline hyperesthesia syndrome should be referred to a specialist in feline behaviour for a secondary opinion. [2] Although the syndrome is highly misunderstood and there is still much that needs to be learnt, it is possible to use current knowledge to guide diagnosis.
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Stimmler Syndrome
Wikipedia
Stimmler syndrome Other names Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus Stimmler syndrome is inherited in an autosomal recessive manner Stimmler syndrome is a rare autosomal recessive [1] congenital disorder first described by Stimmler et al. in 1970. [2] It is characterized by dwarfism, diabetes , a small head, and high levels of alanine in the urine. [3] Contents 1 Symptoms 2 Pathophysiology 3 Diagnosis 4 Treatment 5 References 6 External links Symptoms [ edit ] Symptoms for the disease include microcephaly , a low birth weight, dwarfism, small teeth, and diabetes. The symptoms of Stimmler syndrome are closely related to a disease studied by Haworth et al. in 1967 [4] as well as Leigh subacute necrotizing encephalopathy with lactic acidosis [5] Pathophysiology [ edit ] Stimmler syndrome is an autosomal recessive genetic disorder whose symptoms appear before birth or during infancy. [1] In a study of two sisters born within a year of each other, both with Stimmler syndrome, it was found that high levels of alanine, pyruvate , and lactate were present in both the blood and urine. ... You can help by adding to it . ( August 2017 ) References [ edit ] ^ a b "Stimmler syndrome" . Orphanet . Retrieved 2011-09-14 . ^ a b Stimmler L, Jensen N, Toseland P (October 1970). ... PMC 1647488 . PMID 5477682 . ^ "Stimmler syndrome: Introduction" . Right Diagnosis .
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Asperger Syndrome, X-Linked, Susceptibility To, 1
Omim
A number sign (#) is used with this entry of evidence that susceptibility to X-linked Asperger syndrome-1 (ASPGX1) is conferred by variation in the NLGN3 (300336) gene on chromosome Xq13. Description Asperger syndrome is considered to be a form of childhood autism (see, e.g., 209850). The DSM-IV (American Psychiatric Association, 1994) specifies several diagnostic criteria for Asperger syndrome, which has many of the same features as autism. ... Gillberg et al. (2001) described the development of the Asperger syndrome (and high-functioning autism) Diagnostic Interview (ASDI), which they claimed has a strong validity in the diagnosis of the disorder. For a discussion of genetic heterogeneity of Asperger syndrome, see 608638. Molecular Genetics In a boy with X-linked Asperger syndrome, Jamain et al. (2003) identified a mutation in the NLGN3 gene (300336.0001).
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Joubert Syndrome 4
Omim
A number sign (#) is used with this entry because of evidence that Joubert syndrome-4 (JBTS4) is caused by homozygous deletion in the NPHP1 gene (607100) on chromosome 2q13. Nephronophthisis-1 (NPHP1; 256100) and Senior-Loken syndrome-1 (SLSN1; 256100) are also caused by deletion in the NPHP1 gene. For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see 213300. Clinical Features Parisi et al. (2004) reported 2 sibs with a relatively mild form of Joubert syndrome. ... Molecular Genetics In 2 sibs with Joubert syndrome, Parisi et al. (2004) demonstrated homozygous deletion of the NPHP1 gene (607100.0005) identical to that which causes juvenile nephronophthisis (256100). The authors concluded that mutations in the NPHP1 gene are a rare cause of Joubert syndrome. In 4 patients with Joubert syndrome from 3 nonconsanguineous families, Parisi et al. (2006) identified homozygosity for deletion of the NPHP1 gene.
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Spondylo-Ocular Syndrome
Wikipedia
Spondylo-ocular syndrome Other names SOS [1] Spondylo-ocular syndrome is inherited in an autosomal recessive manner Specialty Medical genetics Spondylo-ocular syndrome is a rare genetic disorder characterised by lesions in the eye and the spine. Contents 1 Presentation 2 Genetics 3 Diagnosis 4 Treatment 5 History 6 References 7 External links Presentation [ edit ] These can be divided into those affecting the eyes , spine and other areas: [2] Eyes amblyopia cataracts nystagmus retinal detachment Spine normal height with disproportionate short trunk immobile spine thoracic kyphosis reduced lumbar lordosis pathological fractures of the vertebral bodies Other features facial dysmorphism facial hypotonia low posterior hairline short webbed neck low set ears mitral valve prolapse aortic valve malformation dilated ureters sensineural deafness Genetics [ edit ] This syndrome is caused by inactivating mutations in the xylosyltransferase ( XYLT2 ) gene. ... You can help by adding to it . ( September 2017 ) History [ edit ] This syndrome was first described by Schmidt et al in consanginous Iraqi family in 2001. [3] References [ edit ] ^ "OMIM Entry - # 605822 - SPONDYLOOCULAR SYNDROME; SOS" . omim.org . Retrieved 25 June 2019 . ^ Munns CF, Fahiminiya S, Poudel N, Munteanu, MC, Majewski J, Sillence DO, Metcalf JP, Biggin A, Glorieux F, Fassier F, Rauch F, Hinsdale ME (2015)Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects. Am J Hum Genet 96: 971-978 ^ Schmidt H, Rudolph G, Hergersberg M, Schneider K, Moradi S, Meitinger T (2001) Retinal detachment and cataract, facial dysmorphism, generalized osteoporosis, immobile spine and platyspondyly in a consanguineous kindred - a possible new syndrome. Clin Genet 59: 99-105 External links [ edit ] Classification D ICD - 10 : Q87.5 OMIM : 605822 MeSH : C565285 External resources Orphanet : 85194
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Mounier-Kuhn Syndrome
Gard
Mounier-Kuhn syndrome is a lung disorder that causes the respiratory tract to dilate or enlarge. ... The condition can be diagnosed by lung function tests , bronchoscopy , and a chest CT scan. The cause of Mounier-Kuhn syndrome is unknown, although cigarette smoke and air pollutants may act as irritating factors. Some cases are associated with connective tissue diseases such as Ehlers-Danlos syndrome , Marfan syndrome , and cutis laxa and may be inherited.
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Blindness-Scoliosis-Arachnodactyly Syndrome
Orphanet
This syndrome associates progressive visual loss with scoliosis or kyphoscoliosis and arachnodactyly of the fingers and toes. Epidemiology The syndrome has been described in four patients (three males and one female) from the same family. ... Etiology No mutations were found in the FBN1 , TGFBR1 and TGFBR2 genes which are associated with other syndromes presenting similar clinical findings (i.e. Marfan syndrome; see this term). Genetic counseling Transmission seems autosomal dominant.
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Pierre Robin Syndrome-Faciodigital Anomaly Syndrome
Orphanet
This syndrome is characterised by the association of Pierre Robin sequence (retrognathia, cleft palate and glossoptosis) with facial dysmorphism (high forehead with frontal bossing) and digital anomalies (tapering fingers, hyperconvex nails, clinodactyly of the fifth fingers and short distal phalanges, finger-like thumbs and easily subluxated first metacarpophalangeal joints).Growth and mental development were normal.
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Bosley-Salih-Alorainy Syndrome
Orphanet
Bosley-Salih-Alorainy syndrome (BSAS) is characterized by variable horizontal gaze dysfunction, profound and bilateral sensorineural deafness associated commonly with severe inner ear maldevelopment, cerebrovascular anomalies (ranging from unilateral internal carotid artery hypoplasia to bilateral agenesis), cardiac malformation, developmental delay and occasionally autism. The syndrome is caused by homozygous mutations in the HOXA1 gene (7p15.2) and is transmitted in an autosomal recessive manner. The syndrome overlaps clinically and genetically with Athabaskan brain dysfunction syndrome (ABDS,).
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Wende–bauckus Syndrome
Wikipedia
Wende–Bauckus syndrome Other names Pegum syndrome Specialty Dermatology Wende–Bauckus syndrome is a cutaneous condition characterized by tiny white macules on the trunk with confluence within flexures. [1] See also [ edit ] Waardenburg syndrome List of cutaneous conditions References [ edit ] ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007).
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Bernard-Soulier Syndrome
Medlineplus
Bernard-Soulier syndrome is a bleeding disorder associated with abnormal platelets, which are blood cells involved in blood clotting. ... Rarely, bleeding under the skin causes tiny red or purple spots on the skin called petechiae. Women with Bernard-Soulier syndrome often have heavy or prolonged menstrual bleeding (menorrhagia). Frequency Bernard-Soulier syndrome is estimated to occur in 1 in 1 million individuals; however, some doctors think the condition is underdiagnosed and may be more common. Causes Bernard-Soulier syndrome is caused by mutations in one of three genes: GP1BA , GP1BB , or GP9 . ... All of these mutations impair clot formation, which leads to the excessive bleeding characteristic of Bernard-Soulier syndrome. Learn more about the genes associated with Bernard-Soulier syndrome GP1BA GP1BB GP9 Inheritance Pattern Most cases of Bernard-Soulier syndrome are inherited in an autosomal recessive pattern , which means both copies of the GP1BA , GP1BB , or GP9 gene in each cell have mutations.
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Bowen-Conradi Syndrome
Omim
A number sign (#) is used with this entry because Bowen-Conradi syndrome (BWCNS) is caused by homozygous mutation in the EMG1 gene (611531) on chromosome 12p13. ... Lowry et al. (2003) ascertained 39 cases of Bowen-Conradi syndrome, born during the 33-year period from 1968 to 2000, and personally examined almost all. ... Innes and Lowry (2002) cited 3 reports of possible Bowen-Conradi syndrome in non-Hutterite children. Lemire (2002) noted 2 non-Hutterite cases of this disorder. ... Lemire (2002) suggested that Bowen-Conradi syndrome be considered in any infant with features compatible with the diagnosis, regardless of ethnicity. Mapping By linkage and haplotype analysis in 11 Canadian Hutterite families (8 Schmiedeleut and 3 Dariusleut), Lamont et al. (2005) mapped the Bowen-Conradi syndrome locus to a 3.5-cM segment on chromosome 12p13.3, bounded by VWF (613160) and D12S397.