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Barber-Say syndrome

Orpha number ORPHA1231
Synonym(s) Hypertrichosis - atrophic skin - ectropion - macrostomia
Prevalence <1 / 1 000 000
Inheritance Not applicable
Autosomal dominant
Autosomal recessive
Age of onset Neonatal
ICD-10
  • Q87.0
ICD-O -
OMIM
UMLS
  • C1319466
MeSH
  • C537908
MedDRA -

Summary

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.

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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