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Otopalatodigital syndrome type 2

Disease definition

A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival.


Classification level: Disorder
  • Synonym(s):
    • OPD II syndrome
    • OPD syndrome 2
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked dominant 
  • Age of onset: Neonatal
  • ICD-10: Q87.0
  • OMIM: 304120
  • UMLS: C1844696
  • MeSH: C538089
  • GARD: 5802
  • MedDRA: -

Detailed information


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