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135 Possible Causes for 3rd-4th Toe Clinodactyly, Mongoloid Slant

  • Wolcott-Rallison Syndrome

    Wolcott–Rallison syndrome, WRS, is a rare, autosomal recessive disorder with infancy-onset diabetes mellitus, multiple epiphyseal dysplasia, osteopenia, mental retardation or developmental delay, and hepatic and renal dysfunction as main clinical findings. Patients with WRS have mutations in the EIF2AK3 gene, which encodes[…][en.wikipedia.org]

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

    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]

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

    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] slant to the palpebral fissures, microcornea, strabismus, myopia, optic atrophy, high-arched palate, preauricular skin tags and small mandible. * [19461] References: Kaufman[wellnessadvocate.com] slanting palpebral fissures Frequent - Absent / decreased / thin eyebrows - Blepharophimosis / short palpebral fissures - Complete / partial microdontia - Epicanthic folds[csbg.cnb.csic.es]

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

    Long list of symptoms include dysmorphic (flat) facies sometimes referred to as cholestasis facies, with prominent forehead, mongoloid slant, mild hypertelorism, straight[whonamedit.com]

    Missing: 3rd-4th Toe Clinodactyly
  • Pitt-Hopkins Syndrome

    Pitt-Hopkins syndrome is a rare genetic disease that stems from mutations in the transcription factor 4 (TCF4) gene located on chromosome 18. The clinical presentation encompasses diverse features, some of the most important being facial changes, mental and growth retardation, epilepsy, respiratory difficulties,[…][symptoma.com]

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

    We report on a 4-year-old girl with blepharophimosis, a typical facial gestalt and skeletal abnormalities seen in the blepharofacioskeletal syndrome (BFSS). A comparative review with previous cases provides further evidence that BFSS and Schilbach-Rott syndrome (SRS) are the same condition.[ncbi.nlm.nih.gov]

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

    Abstract We report two sisters with mental retardation, coarse facial features, telecanthus, flat malar region, prominent lower lip, kyphoscoliosis, and tapering fingers. Although these patients' phenotypes showed considerable overlap with the Coffin-Lowry and the Atkin-Flaitz syndromes, their overall picture makes[…][ncbi.nlm.nih.gov]

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

    We describe an infant girl with a clinical, chemical, and pathologic syndrome remarkably similar to Zellweger cerebrohepatorenal syndrome but whose liver parenchymal cells contained abundant peroxisomes. Peroxisomal L-alpha hydroxy acid oxidase, catalase, and the plasmalogen synthesizing enzyme dihydroxy acetone[…][ncbi.nlm.nih.gov]

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

    Miller-Dieker syndrome is a rare disorder with contiguous gene deletion that is characterized by lissencephaly, distinct facial and other congenital anomalies. It is associated with seizures, mental delay, and early death. Miller-Dieker syndrome (MDS), is a disorder with abnormal neuronal migration during brain[…][symptoma.com]

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

    Wiedemann–Rautenstrauch (WR) syndrome [ˈviːdəman ˈʁa͜ʊtən.ʃtʁa͜ʊx], also known as neonatal progeroid syndrome, is a rare autosomal recessive progeroid syndrome. There have been over 30 cases of WR.WR is associated with abnormalities in bone maturation, and lipids and hormone metabolism. Affected individuals[…][en.wikipedia.org]

    Missing: 3rd-4th Toe Clinodactyly

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