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Autosomal recessive Stickler syndrome

Disease definition

A rare type of Stickler syndrome characterized by moderate to severe sensorineural hearing loss, high myopia, retinal degeneration, vitreous anomalies, and epiphyseal dysplasia. Midface hypoplasia, cleft palate, as well as additional skeletal manifestations (such as platyspondyly, scoliosis, and tibial and femoral bowing at birth) have also been observed.

ORPHA:250984

Classification level: Subtype of disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: Q87.5
  • OMIM: 614134  614284
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

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