Oculo-facial-cardio-dental syndromeQ87.0

Author:Prof. Dr. med. Peter Altmeyer

All authors of this article

Last updated on: 29.10.2020

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Synonym(s)

OFCD syndrome

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DefinitionThis section has been translated automatically.

Very rare complex syndromal X-linked dominant inherited disease (OMIM 300485) with male lethality in utero.

EtiopathogenesisThis section has been translated automatically.

This is based on mutations in the BCOR gene (short arm of the X chromosome: Xp21.2-p11.4). The mutations lead to a loss of function of the BCOR protein.

Clinical featuresThis section has been translated automatically.

The following symptoms have been observed:
  • Asymmetry of the face halves
  • broad tip of the nose
  • long philtrum
  • big toe
  • delayed tooth eruption
  • extended roots
  • Cataract
  • Microphthalmia
  • Ventricular septal defect
  • Camptodactyly and syndactyly
  • secondary glaucoma and cleft lip and palate.

Authors

Last updated on: 29.10.2020

Author: Prof. Dr. med. Peter Altmeyer