Rare Zebra

Rare disease search prototype built on Orphanet data

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ORPHA:166100

Autosomal dominant otospondylomegaepiphyseal dysplasia

Also called AD OSMED, Stickler syndrome type 3, Stickler syndrome, non-ocular type

Body system
Bone diseases
Inheritance pattern
Autosomal dominant
Typical age of onset
Infancy, Neonatal
Estimated prevalence
Not documented in Orphadata
Rarity class
Not documented in Orphadata

ORPHA:166100 is classified under "Bone diseases" in the Orphanet nomenclature.

Common signs

  • Cleft palate
  • Malar flattening
  • Long philtrum
  • Sensorineural hearing impairment
  • Arthralgia
  • Glossoptosis