Orphanet: Otopalatodigital syndrome type 1

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Otopalatodigital syndrome type 1

Disease definition

A disorder that is the mildest form of otopalatodigital syndrome spectrum disorder, and is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies.


Classification level: Disorder
  • Synonym(s):
    • OPD I syndrome
    • OPD syndrome 1
    • Taybi syndrome
  • Prevalence: -
  • Inheritance: X-linked dominant 
  • Age of onset: -
  • ICD-10: Q87.0
  • OMIM: 311300
  • UMLS: C0265251
  • MeSH: -
  • GARD: 5121
  • MedDRA: -

Detailed information


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