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Autosomal dominant otospondylomegaepiphyseal dysplasia

Disease definition

A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities.

ORPHA:166100

Classification level: Disorder
  • Synonym(s):
    • AD OSMED
    • Stickler syndrome type 3
    • Stickler syndrome, non-ocular type
  • Prevalence: -
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.0
  • OMIM: 184840
  • UMLS: C1861481
  • MeSH: C537494
  • GARD: 5021
  • MedDRA: -

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.