Craniorhiny

Orpha code: 157832OMIM code: 123050

Definicja

A rare frontonasal dysplasia malformation syndrome characterized by an oxycephalic skull with craniosynostosis, wide nose with anteverted nostrils, hirsutism at base of nose, agenesis of the nasolacrimal ducts, and bilateral, symmetrical nasolabial cysts on upper lip. Additional features may include hypertelorism. There have been no further descriptions in the literature since 1991.

Disease data
Klasyfikacja

Malformation syndrome

Kod ORPHA
157832
Kod OMIM
123050
Kod ICD10
Q30.8
Kod ICD11
LA70.Y

No additional description.

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