Okulo-facio-cardio-dental syndrome
| Classification according to ICD-11 | |
|---|---|
| LD21.0 | Syndromes with microphthalmia as a major feature |
| ICD-11 ( WHO version 2019) | |
The ocular-facial-cardiac-dental syndrome ( OFCD syndrome Syndromic microphthalmia type 2 ) is a rare disease that was first described in the 1980th It is inherited in an x-linked dominant manner and therefore only occurs in women.
Symptoms
Congenital changes to the eyes, face, heart, teeth and skeleton can occur. So far, the following have been observed:
- congenital cataract
- Microphthalmia
- Asymmetry of the halves of the face
- broad tip of the nose
- long philtrum
- Ventricular septal defect
- delayed tooth eruption
- greatly elongated tooth roots
- a broad big toe
- Sandal gap
- Camptodactyly and Syndactyly
In addition, secondary glaucoma and cleft lip and palate have been observed in some cases.
genetics
OFCD syndrome is inherited in an X-linked dominant manner with male lethality in utero. It is caused by mutations in the BCOR gene (OMIM 300485), which is on the short arm of the X chromosome (Xp21.2-p11.4). So far, point mutations and various rearrangements (deletions and insertions) have been found. All mutations are very likely to lead to a loss of function of the BCOR protein.
literature
- Entry at orpha.net (English)
- http://www.uke.uni-hamburg.de/institute/humangenetik/index_46665.php (accessed on March 6, 2008)
- http://wrongdiagnosis.com/o/oculofaciocardiodental_syndrome/intro.htm (accessed March 6, 2008)
- http://ghr.nlm.nih.gov/condition=oculofaciocardiodentalsyndrome (English, accessed on July 23, 2008)
