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68 Possible Causes for Cataract, Mental Retardation, Prominent High Nasal Root

  • Chudley-Rozdilsky Syndrome

    Microcornea Syndrome Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome Cataracts, Ataxia, Short Stature, and Mental Retardation Catel Manzke Syndrome Cauda equina[rgd.mcw.edu] Human phenotypes related to Multicore Myopathy with Mental Retardation, Short Stature, and Hypogonadotropic Hypogonadism: 60 33 (show all 35) # Description HPO Frequency Orphanet[malacards.org] nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Protruding[rarediseases.info.nih.gov]

  • Hallermann-Streiff Syndrome

    To report two cases of Hallermann-Streiff syndrome with exudative retinal detachment after cataract surgery. Case report.[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] nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Pulmonary[rarediseases.info.nih.gov]

  • Congenital Cataract

    Note that cataract may affect one or both eyes.[symptoma.com] retardation.[ncbi.nlm.nih.gov] We present a Hungarian girl with microcephaly, microphthalmia, congenital cataract, prominent nasal root, peaked nose, micrognathia with high arched palate, mild mental retardation[ncbi.nlm.nih.gov]

  • Schwartz-Jampel Syndrome

    Ocular manifestation is a part of the syndrome and include blepharospasm, cataract, subluxation of lens and myopia.[ajol.info] The prevalence of mental retardation has been estimated at 25%, however, no etiologic cause has been described.[ncbi.nlm.nih.gov] nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Ptosis[rarediseases.info.nih.gov]

  • Malignant Hyperthermia - Arthrogryposis - Torticollis

    […] complementation type Methylenetetrahydrofolate reductase deficiency Methylmalonic acidemia with homocystinuria Methylmalonic acidemia Methylmalonic aciduria microcephaly cataract[academickids.com] […] of the zygomatic bone Prominence of cheekbone Pronounced cheekbone [ more ] 0012370 Prominent nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose[rarediseases.info.nih.gov] Myoglobinuria dominant form Myoglobinuria recurrent Myoglobinuria Myoneurogastrointestinal encephalopathy syndrome Myop [ edit ] Myopathy and diabetes mellitus Myopathy cataract[en.wikipedia.org]

  • Renpenning Syndrome 1

    Abnormality of the hair ; Abnormality of the rib cage ; Anal atresia ; Ankylosis ; Anxiety ; Atrial septal defect ; Blindness ; Brachycephaly ; Bulbous nose ; Camptodactyly ; Cataract[mousephenotype.org] Brain 72:246–262 [ PubMed ] [ Google Scholar ] Gerrard JW, Renpenning HJ (1974) Sex-linked mental retardation.[ncbi.nlm.nih.gov] He shows large, low-set ears, high nasal root, micrognathia, long philtrum, and prominent metopic suture.[doi.org]

  • Noonan Syndrome

    He underwent an eye examination after complaining of decreased visual acuity in the right eye and was diagnosed with mature cataract, which was treated by cataract surgery[ncbi.nlm.nih.gov] […] deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Percent of people who have these symptoms is not available through HPO Abnormality[rarediseases.info.nih.gov] The triangular facial features become even sharper in teenagers and young adults, with a pinched root and a thin, high bridge on the nose.[touchendocrinology.com]

  • Qazi-Markouizos Syndrome

    Microcornea Syndrome Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome Cataracts, Ataxia, Short Stature, and Mental Retardation Catel Manzke Syndrome Cauda equina[rgd.mcw.edu] Mental retardation associated with myopathy, facial malformation, and seizures. Puerto Rican Infant Hypotonia Syndrome.[accessanesthesiology.mhmedical.com] nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Seizures[rarediseases.info.nih.gov]

  • Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome

    Mental Retardation Sensenbrenner syndrome Shprintzen Golberg Craniosynostosis Skeletal Dysplasia, San Diego Type Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts[rgd.mcw.edu] […] pitched voice Dilatation Prominent nasal bridge Hydrops fetalis Reduced subcutaneous adipose tissue Entropion Progeroid facial appearance Severe intrauterine growth retardation[mendelian.co] 900000000000497000 MAPTARGET XE2ux 6011000124106 MAPGROUP 4 6011000124106 MAPTARGET Q69.9 6011000124106 MAPADVICE IF SPINAL MUSCULAR ATROPHY, DANDY-WALKER MALFORMATION, CATARACT[bioportal.bioontology.org]

  • Psychomotor Retardation

    Abstract We report four children (three sibs and one sporadic case) with congenital sutural cataract (opacity of the sutures of the crystalline lens), retinitis pigmentosa[ncbi.nlm.nih.gov] OBJECTIVE: Abnormalities in thyroid state may affect development and function of the brain and result in mental retardation (MR).[ncbi.nlm.nih.gov] Additional findings included narrow, high arched palate, prominent nasal root, long philtrum, distended abdomen, and drooling from open mouth.[ncbi.nlm.nih.gov]

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