Oro-facio-digital syndrome type 3

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Classification according to ICD-10
Q87.0 Congenital malformation syndrome with predominant involvement of the face
ICD-10 online (WHO version 2019)

The Oro-facial-digital syndrome type 3 ( Ofd3 ), also Sugarman syndrome called, is a very rare autosomal - recessive inherited disease and is one of the Oro-facial-digital syndromes .

The name refers to the first author of the first description from 1971, the American human geneticist Gerald I. Sugarman .

distribution

The frequency is given as less than 1 in 1,000,000, so far only 2 families have been described. Inheritance is autosomal - recessive .

root cause

The etiology is not yet known.

Clinical manifestations

Clinical criteria are:

  • Malformations in the mouth and eye area ( hypertelorism , sloping eyelid axes, myoclonic eyelid twitching, split uvula )
  • Facial abnormalities (prominent forehead and prominent back of the head, round face with full cheeks)
  • Finger malformations (postaxial polydactyly )
  • Other skeletal abnormalities ( funnel breast , short sternum , kyphosis )
  • Severe intellectual disability with spastic paresis

Differential diagnosis

Other forms of orofacio-digital syndrome must be distinguished .

Individual evidence

  1. ↑ GI Sugarman, M. Katakia, J. Menkes: See-saw winking in a familial oral-facial-digital syndrome. In: Clinical genetics. Vol. 2, No. 4, 1971, ISSN  0009-9163 , pp. 248-254, PMID 5004413 .
  2. ↑ a b Oro-facio-digital syndrome type 3. In: Orphanet (database for rare diseases).

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