Oculo-facial-cardio-dental syndrome Q87.0
Synonym(s)
OFCD syndrome
Definition
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Very rare complex syndromal X-linked dominant inherited disease (OMIM 300485) with male lethality in utero.
Etiopathogenesis
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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.
Clinic
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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.
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Dental diseases, skin changes;Disclaimer
Please ask your physician for a reliable diagnosis. This website is only meant as a reference.
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Prof. Dr. med. Peter Altmeyer