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Barber-Say syndrome
rareBarber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia.
- Identifiers
- MONDO:0008853 OMIM:209885Orphanet:1231
- Causal genes
- TWIST2
- Part of
- Congenital entropionEctodermal dysplasia syndromeHypertrichosis of eyelidMultiple congenital anomalies/dysmorphic syndrome without intellectual disability
- Also known as
- Barber Say syndrome · BBRSAY · hypertrichosis atrophic skin ectropion macrostomia · hypertrichosis, atrophic skin, ectropion, and macrostomia · hypertrichosis-atrophic skin-ectropion-macrostomia syndrome
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