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Orofaciodigital syndrome type 5

Disease definition

A rare orofaciodigital syndrome characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum).

ORPHA:2919

Classification level: Disorder
  • Synonym(s):
    • OFD5
    • Oral-facial-digital syndrome type 5
    • Orofaciodigital syndrome, Thurston type
    • Polydactyly postaxial with median cleft of upper lip
    • Thurston syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.0
  • ICD-11: LD25.00
  • OMIM: 174300
  • UMLS: C1868118
  • MeSH: C557819
  • GARD: 4120
  • MedDRA: -

  A summary on this disease is available in Deutsch (2009) Français (2009) Italiano (2009) Nederlands (2009) Português (2009)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.