Orphanet: Orofaciodigital syndrome type 4

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Orofaciodigital syndrome type 4

Disease definition

Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet.


Classification level: Disorder
  • Synonym(s):
    • Baraitser-Burn syndrome
    • Mohr-Majewski syndrome
    • OFD4
    • Oral-facial-digital syndrome type 4
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.0
  • OMIM: 258860
  • UMLS: C0406727
  • MeSH: -
  • GARD: 816
  • MedDRA: -
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