Craniorhiny

Orpha code: 157832OMIM code: 123050

Definition

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
Classification

Malformation syndrome

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

No additional description.

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