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1,714 Possible Causes for 3rd-4th Toe Clinodactyly, Mild to Severe Mental Retardation, Mongoloid Slant

Did you mean: 3rd-4th Toe Clinodactyly, Mild to, Severe Mental Retardation, Mongoloid Slant

  • Pitt-Hopkins Syndrome

    mental retardation.[ncbi.nlm.nih.gov] The presence of severe mental retardation associated with anomalous breathing pattern may suggest the Joubert and Rett syndrome, however these were excluded on the basis of[ncbi.nlm.nih.gov] Discussion The presence of severe mental retardation associated with a particular breathing pattern can suggest some genetic syndromes.[ijponline.net]

    Missing: 3rd-4th Toe Clinodactyly
  • Kaufman Oculocerebrofacial Syndrome

    Kaufman oculocerebrofacial syndrome (KOS) is a rare autosomal recessive disorder characterized by severe mental retardation, microcephaly, long narrow face, ocular anomalies[ncbi.nlm.nih.gov] Comparative analysis with previous cases reveals a heterogeneous syndrome in which the micro-brachycephaly, the mongoloid slanted eyes with different anomalies, the micrognathia[ncbi.nlm.nih.gov] Abstract Kaufman oculocerebrofacial syndrome (KOS) is a rare autosomal recessive disorder characterized by severe mental retardation, microcephaly, long narrow face, ocular[doi.org]

    Missing: 3rd-4th Toe Clinodactyly
  • Wiedemann-Rautenstrauch Syndrome

    […] to severe mental retardation and dysmorphism.[en.wikipedia.org] […] to severe mental retardation and dysmorphism . [8] Marfan lipodystrophy syndrome (MFLS) has sometimes been confused with Wiedemann–Rautenstrauch syndrome, since the Marfanoid[medbox.iiab.me] […] to severe mental retardation and dysmorphism . [4] Genetics This condition has been associated with mutations in the POLR3A gene. [5] This gene is located on the long arm[popflock.com]

    Missing: 3rd-4th Toe Clinodactyly
  • Renpenning Syndrome 1

    The clinical phenotype includes severe mental retardation, microcephaly, up-slanting palpebral fissures, small testes, and stature shorter than that of nonaffected males.[plu.mx] Cerebropalatocardiac (Hamel) syndrome has been associated with severe mental retardation with congenital heart defects, microcephaly, spasticity, short stature, cleft or highly[egl-eurofins.com]

    Missing: 3rd-4th Toe Clinodactyly
  • Rhizomelic Chondrodysplasia Punctata Type 1

    mental retardation with spasticity.[uniprot.org] […] broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe[diseaseinfosearch.org] mental retardation.[cags.org.ae]

    Missing: 3rd-4th Toe Clinodactyly
  • Wolcott-Rallison Syndrome

    There was slight to severe mental retardation or developmental delay in the majority of the patients, but some were within the normal range (WRS9-1, 10-1, 11-1, and 12-1).[doi.org]

    Missing: 3rd-4th Toe Clinodactyly
  • Pallister-Killian Syndrome

    Two severely mentally retarded patients are reported whose diagnoses were confirmed by fibroblast cultures at ages 16 and 21 years.[ncbi.nlm.nih.gov] mental retardation.[ncbi.nlm.nih.gov] One was diagnosed at the age of 14 years with severe mental retardation and other dysmorphologic findings and abnormal skin pigmentation.[ncbi.nlm.nih.gov]

    Missing: 3rd-4th Toe Clinodactyly
  • Down Syndrome

    mental retardation The most frequently occurring mental retardation/multiple anomaly syndrome usually involving more than 100 individual defects.[icd9data.com] In addition to ocular features related to DS such as epicanthal folds, narrowed or slanted palpebral fissures (the mongoloid slant) and Brushfield spots (38–85%)(Fig. 4 ),[ncbi.nlm.nih.gov] […] palpebral fissures, epicanthus, brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, simian crease, and moderate to severe[icd9data.com]

    Missing: 3rd-4th Toe Clinodactyly
  • Zellweger Syndrome

    A 13-year-old girl with severe mental retardation, tapetoretinal degeneration, an extinguished electroretinogram and sensoneurinal hearing loss is described.[ncbi.nlm.nih.gov] The pathogenic mechanisms leading to extreme hypotonia, severe mental retardation and early death are unknown.[ncbi.nlm.nih.gov] mental retardation Mental retardation, severe Severe mental retardation [ more ] 0010864 Intrahepatic biliary dysgenesis 0001401 Macroglossia Abnormally large tongue Increased[rarediseases.info.nih.gov]

    Missing: 3rd-4th Toe Clinodactyly
  • Miller Dieker Syndrome

    Children with MDS also suffer from severe mental retardation, growth delay, epilepsy and occasionally hypsarrythmia on electroencephalogram.[content.iospress.com] Surviving individuals have severe mental retardation. They have low set ears, severe vision problems , a high forehead and a small mouth with a wide upper lip.[nethealthbook.com] Other signs and symptoms of Miller Dieker syndrome include: • severe mental retardation; • low set ears; • severe visual problems; • high forehead; • small mouth with a wide[webhealth.com]

    Missing: 3rd-4th Toe Clinodactyly