Frontofacionasal dysplasia

Orpha code: 1791OMIM code: 229400

Definition

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
Classification

Malformation syndrome

Synonyms
Gollop syndrome
Zespół Gollopa
ORPHA code
1791
OMIM code
229400
ICD10 code
Q75.8
ICD11 code
LD25.3

No additional description.

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