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Barber-Say syndrome

Synonym(s) Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
or Autosomal recessive
or Not applicable
Age of onset Neonatal
  • Q87.0
  • C1319466
  • C537908
MedDRA -


Disease definition

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


BBS is a rare entity described in eleven patients to date.

Clinical description

BBS presents with congenital generalized hypertrichosis, facial dysmorphism (typically with bilateral ectropion, absent or sparse eyebrows and lashes, hypertelorism/telecanthus, broad nasal bridge, bulbous nose, anteverted nostrils, macrostomia, thin lips and misshapen ears), hyperlaxity and redundancy of the skin with deep folds, nipple hypoplasia and absence of mammary glands. Teeth are present, but with overgrown gingiva. Dental abnormalities described include taurodontism, shovel-shaped incisors, delayed eruption of deciduous dentition and premature apical closure. Other less frequent findings include cleft palate, hearing loss, mild psychomotor delay and genital abnormalities.


Autosomal dominant and autosomal recessive transmission, as well as sporadic cases have been reported.

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