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837 Possible Causes for Mental Retardation, Microphthalmos

  • Patau Syndrome

    Survivors suffer from severe mental retardation and health problems all their lives.[symptoma.com] retardation may complicate survival Please rate topic.[medbullets.com] Overview Patau syndrome or Trisomy 13 is a rare and very severe chromosome disorder leading to mental retardation and physical defects.[checkorphan.org]

  • Congenital Muscular Dystrophy

    […] abnormalities such as crossed eyes (strabismus), cataracts, nearsightedness (myopia), abnormal eye movements, and, in severe cases, retinal detachment and abnormally small eyes (microphthalmos[rarediseases.org] CONCLUSIONS: Mutations within the FKRP gene can result in CMD associated with mental retardation and cerebellar cysts.[ncbi.nlm.nih.gov] […] detachment have been reported in a high number of patients accompanied or not by other ophthalmological alterations such as abnormal eye movements, strabismus, myopia and microphthalmos[doi.org]

  • Laurence Moon Syndrome

    […] disabilities) 759.89 Marchesani (-Weill) syndrome (brachymorphism and ectopia lentis) 759.89 Meyer-Schwickerath and Weyers syndrome (dysplasia oculodentodigitalis) 759.89 Microphthalmos[icd9data.com] Laurence Moon syndrome is a rare genetic disease of a multisystemic nature that features hypopituitarism, obesity, mental retardation, ataxia, and retinal dystrophy.[symptoma.com] Laurence-Moon-Biedl syndrome [ law rens mo̳n be d'l ] a hereditary autosomal recessive syndrome characterized by obesity, hypogenitalism, retinitis pigmentosa, mental retardation[medical-dictionary.thefreedictionary.com]

  • Pierre Robin Syndrome

    retardation, severe seizures, skeletal (limb) abnormalities, small head (microcephaly), small lower jaw (micrognathia) and undescended testicles (cryptorchidism).[doi.org] Keyword: Pierre Robin syndrome, Sleep apnea syndrome, Mental retardation pp.1079-1083 発行日 1995年10月15日 Published Date 1995/10/15 DOI Copyright 1995, Igaku-Shoin Ltd.[webview.isho.jp] Pierre-Robin anomalad, moderate mental retardation and distal 4q deletion. Ann Genet. 1981 ; 24: 187 – 188.[doi.org]

  • Fraser Syndrome

    Computerized Tomography revealed left microphthalmos and a malformation like-coloboma into right ocular globe with cysts and a small calcification parietal anterior.[ncbi.nlm.nih.gov] The patient had microphthalmia, blindness, widely spaced nipples, bifid ureter, syndactyly of the toes, and mental retardation.[ncbi.nlm.nih.gov] It was revealed also high-grade microphthalmos in the left ocular globe with persistent primary vitreous and retinal detachment distal.[ijponline.biomedcentral.com]

  • Hallermann-Streiff Syndrome

    The microphthalmos had overlapping posterior segment findings usually reported with Nanophthalmos and Posterior microphthalmos.[ncbi.nlm.nih.gov] "Dwarfism" as a possible clinical risk marker of mental retardation is discussed. As cause, a mendelian autosomal dominant mutation seems most probable.[ncbi.nlm.nih.gov] All patients had a microcornea and microphthalmos. Three patients had a membranous cataract.[ncbi.nlm.nih.gov]

  • Colobomatous Microphthalmia

    Nanophthalmos and posterior microphthalmos belong to another spectrum of disease, sometimes termed simple microphthalmos.[aao.org] Abstract A syndrome consisting of colobomatous microphthalmia, heart disease, abnormalities of the external ear with associated hearing loss, and mental retardation is described[ncbi.nlm.nih.gov] retardation.[healio.com]

  • Cross Syndrome

    A, Photograph of the eye in Patient 1 showing the microphthalmos and spastic ectro.pion. B, Ocular anomalies in Patient 1.[kundoc.com] A syndrome of ocular and cutaneous hypopigmentation, severe mental retardation with spastic tetraplegia and athetosis was first observed by Cross in three siblings of an inbred[ncbi.nlm.nih.gov] In addition to the cutaneous hypopigmentation, both presented deep mental retardation and spastic tetraplegia with athetoid movements.[ncbi.nlm.nih.gov]

  • Microphthalmos

    The microphthalmos was seen in three forms: bilateral, severe or mild and severe microphthalmos of one eye with the fellow eye mildly affected.[ncbi.nlm.nih.gov] Search for more papers by this author First published: October 1981 Cited by: 8 Abstract Among 993 visually impaired mentally retarded persons 86 had microphthalmos or colobomata[onlinelibrary.wiley.com] The main findings were, (case 1): microphthalmos with iris coloboma, unilateral posterior orbital cyst, and mental retardation, karyotype normal, consanguineous parents, ([ncbi.nlm.nih.gov]

  • Syndromic Microphthalmia Type 10

    Diagnosis Code Q11.2 ICD-10: Q11.2 Short Description: Microphthalmos Long Description: Microphthalmos This is the 2019 version of the ICD-10-CM diagnosis code Q11.2 Valid[icdlist.com] In most cases intelligence is normal, but some may show mental retardation.[bredagenetics.com] […] anomaly Microphthalmos associated with other anomalies of eye and/or adnexa Microphthalmos of bilateral eyes Microphthalmos of left eye Microphthalmos of right eye Right[icd10data.com]

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