Orphanet: Otopalatodigital syndrome spectrum disorder
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Otopalatodigital syndrome spectrum disorder

Disease definition

Otopalatodigital syndrome spectrum disorder is a primary bone dysplasia and encompasses a group of congenital anomalies that are characterized by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group includes otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects.

ORPHA:364541

Classification level: Group of disorders
  • Synonym(s):
    • OPD spectrum disorder
    • OPSD
  • Prevalence: -
  • Inheritance: -
  • Age of onset: -
  • ICD-10: -
  • OMIM: -
  • UMLS: C2748918
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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