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Oculoskeletodental syndrome

Disease definition

A rare ciliopathy characterized by congenital cataract with secondary glaucoma, developmental delay, short stature, multiple skeletal abnormalities (spinal deformities, limb anomalies, delayed bone age), dental anomalies (oligodontia, enamel defects), dysmorphic facial features (including coarse facies, low hairline, epicanthal folds, flat and broad nasal bridges, and retrognathia), and stroke. Other recurrent manifestations are hearing loss and nephrocalcinosis.


Classification level: Disorder
  • Synonym(s):
    • Oculo-skeleto-dental syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood, Adolescent, Adult
  • ICD-10: Q87.8
  • OMIM: 618440
  • UMLS: C5193101
  • MeSH: -
  • GARD: -
  • MedDRA: -
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