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Barber-Say syndrome

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Description

Barber-Say syndrome is a rare congenital condition characterized by severe hypertrichosis, especially of the back, skin abnormalities such as hyperlaxity and redundancy, and facial dysmorphism, including macrostomia, eyelid deformities, ocular telecanthus, abnormal and low-set ears, bulbous nasal tip with hypoplastic alae nasi, and low frontal hairline (summary by Roche et al., 2010).

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

2

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Genes

External Links

  • OMIM

    209885

  • Orphanet

    1231

  • HPO
  • Medgen

    C1319466

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