Frontofacionasal dysplasia

Orpha code: 1791OMIM code: 229400

Definicja

A rare genetic disease characterized by variable multiple congenital craniofacial anomalies, including brachycephaly, cranium bifidum occultum, hypertelorism, midface hypoplasia, nasal hypoplasia, or cleft lip/palate, among others, as well as abnormalities of the eyes and eyelids. Encephalocele and spina bifida have also been reported in association.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Gollop syndrome
Zespół Gollopa
Kod ORPHA
1791
Kod OMIM
229400
Kod ICD10
Q75.8
Kod ICD11
LD25.3

No additional description.

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