Orphanet: Orofaciodigital syndrome type 3
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Orofaciodigital syndrome type 3

Disease definition

Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit.

ORPHA:2752

Classification level: Disorder
  • Synonym(s):
    • OFD3
    • Oral-facial-digital syndrome type 3
    • Sugarman syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: Q87.0
  • OMIM: 258850
  • UMLS: C0406726
  • MeSH: -
  • GARD: 10518
  • MedDRA: -

Summary

Epidemiology

Five cases in two families have been reported (two males and three females).

Clinical description

Main clinical features include prominent forehead and occiput, round face with full cheeks, hypertelorism, esotropia, downslanting palpebral fissures, myoclonic twitching of the eyelids, conjugate deviation of the eyes, bifid uvula, pectus excavatum, short sternum, kyphosis, postaxial polydactyly, normal stature and severe spasticity.

Etiology

The causative gene has not yet been identified.

Genetic counseling

Autosomal recessive inheritance has been suggested.

Expert reviewer(s):  Pr Marie-Paule VAZQUEZ - Last update: November 2009

  A summary on this disease is available in Deutsch (2009) Español (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.