Barber-Say syndrome

Orpha code: 1231OMIM code: 209885

Definition

Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia.

Disease data
Classification

Malformation syndrome

Synonyms
Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome
Hipertrichoza - skóra atroficzna - ektropion - makrostomia
ORPHA code
1231
OMIM code
209885
ICD10 code
Q87.0
ICD11 code
LD27.3

No additional description.

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