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Orofaciodigital syndrome type 11

Disease definition

Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS; see this term) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects.

ORPHA:141000

  • Synonym(s):
    • OFD11
    • Oral-facial-digital syndrome type 11
    • Oral-facial-digital syndrome, Gabrielli type
    • Orofaciodigital syndrome, Gabrielli type
  • Prevalence: <1 / 1 000 000
  • Inheritance: Not applicable 
  • Age of onset: Neonatal
  • ICD-10: Q87.0
  • OMIM: 612913
  • UMLS: C2752048
  • MeSH: -
  • GARD: 4118
  • MedDRA: -

Detailed information

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