Pai syndrome

Orpha code: 1993OMIM code: 155145

Definition

A rare frontonasal dysplasia characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin, nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development.

Disease data
Classification

Malformation syndrome

Synonyms
Median cleft of the upper lip-corpus callosum lipoma-midline facial cutaneous polyps syndrome
Pośrodkowy rozszczep górnej wargi - tłuszczak ciała modzelowatego - polipy skórne
ORPHA code
1993
OMIM code
155145
ICD10 code
Q87.8
ICD11 code
LD2F.1Y

No additional description.

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