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160 Possible Causes for Hypertrichosis of Eyebrows, Mental Retardation

  • Rubinstein-Taybi Syndrome

    The Rubinstein-Taybi syndrome (RTS; OMIM 180849) is a well-defined mental retardation/multiple congenital anomalies (MR/MCA) syndrome characterized by postnatal growth retardation[ncbi.nlm.nih.gov] The common abnormalities include hypertrichosis and hirsuitism,heavy eyebrows, prominent beaked nose,hypoplastic maxilla, lowest ears and skeletal anomalies including broad[ispub.com] The risk of developing this disease is 1 in 100,000-125,000 newborns and up to about 1 in 300 of institutionalized mentally retarded patients.[clinicaladvisor.com]

  • Fucosidosis

    The early symptom of anterior beaking of the vertebral bodies, in combination with mental retardation and angiokeratoma corporis diffusum, can suggest the possibility of type[ncbi.nlm.nih.gov] Individuals usually have mild coarsening of facial features, dysostosis multiplex, mental retardation enlarged liver, spleen and/or heart involvement.[web.archive.org] A 14-year-old girl is presented, with recurrent infections, progressive dystonic movement disorder and mental retardation with onset in early childhood.[ncbi.nlm.nih.gov]

  • Cerebro-Facio-Thoracic Dysplasia

    We report another case of cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome) characterized by mental retardation and characteristic facies: narrow forehead, synophris[ncbi.nlm.nih.gov] ), a narrow forehead and a short nose; there are also hypertrichosis (espec- ially posteriorly) and mental retardation.[vdocuments.site] The syndrome was characterized by distinctive craniofacial dysmorphism, skeletal anomalies, and mental retardation.[scinapse.io]

  • Alpha-Mannosidosis

    All patients showed mental retardation and hearing loss from early childhood.[ncbi.nlm.nih.gov] Human alpha-mannosidosis is a lysosomal storage disorder characterized by mental retardation, dysostosis multiplex, and hepatosplenomegaly.[ncbi.nlm.nih.gov] Clinical symptoms include coarse facial features, skeletal involvement (dysostosis multiplex), hearing disabilities, mental retardation and hepatosplenomegaly.[ncbi.nlm.nih.gov]

  • Wiedemann-Steiner Syndrome

    Marques; Author Information Checking for direct PDF access through Ovid Abstract An 8-year-old girl with growth deficiency, mental retardation, unusual facies and hypertrichosis[doi.org] […] cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long[orpha.net] Acta Paediatr Suppl 1994 Growth deficiency, mental retardation and unusual facies Steiner et al.[pubfacts.com]

  • Coffin-Lowry Syndrome

    In two families, the clinical diagnosis had been nonsyndromic X-linked mental retardation.[ncbi.nlm.nih.gov] In one family, a missense mutation was associated solely with mild mental retardation and no other clinical feature.[ncbi.nlm.nih.gov] The Coffin Lowry syndrome: a simply inherited trait comprising mental retardation, faciodigital anomalies and skeletal involvement .[jhu.pure.elsevier.com]

  • Marshall-Smith Syndrome

    Marshall-Smith syndrome is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation.[ncbi.nlm.nih.gov] The Marshall-Smith syndrome is characterised by overgrowth, accelerated skeletal maturation, and dysmorphic facial features, often associated with mental retardation of variable[ncbi.nlm.nih.gov] Marshall-Smith syndrome is characterized by overgrowth, advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features and variable mental retardation[ncbi.nlm.nih.gov]

  • Microcephaly

    No clear consensus has been established regarding the management of oral cancer in patients with mental retardation.[ncbi.nlm.nih.gov] Characteristic facial features included micrognathia, a thin upper lip and long philtrum, narrow almond-shaped palpebral fissures, synophrys, flared eyebrows and facial hypertrichosis[ncbi.nlm.nih.gov] Hyperphosphatasia with mental retardation syndrome-3 is an autosomal recessive disorder usually characterized by severe mental retardation.[ncbi.nlm.nih.gov]

  • Fetal Hydantoin Syndrome

    Symptoms of FHS include microcephaly, hypoplasia or absence of nails on the fingers or toes, abnormal facies, mental and physical retardation, and cardiac defects.[medical-dictionary.thefreedictionary.com] […] that meet in the middle (synophrys), downturned mouth, high arched palate, hypertrichosis, long eyelashes, short limbs Dubowitz syndrome Unknown; suspected autosomal recessive[aafp.org] retardation) and limb defects including hypoplastic nails and distal phalanges ( birth defects ).[en.wikipedia.org]

  • Gingival Fibromatosis-Progressive Deafness Syndrome

    Mental Retardation, X-Linked 72 3 Mental Retardation, X-Linked 9 2 Mental Retardation, X-Linked 90 3 Mental Retardation, X-Linked 93 2 Mental Retardation, X-Linked 96 1 Mental[preventiongenetics.com] Since variable expressionoccurs in autosomal dominant conditions and synophris,bushy eyebrows and hypertrichosis were not present inunaffected family members, the diagnosis[docslide.net] They had bushy eyebrows and synophrys, but no generalised hypertrichosis, were of normal intellect and had none of the syndromic associations of HGF as delineated above.[documentslide.com]

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