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References OMIM Gene GeneReviews HGMD HGNC
last update : 21-08-2015
Location 2q37.3
Name Barber-Say syndrome
Other name(s)
  • lid agenesis-macrostomia-psychomotor retardation-forehead hypertrichosis syndrome
  • Corresponding gene TWIST2
    Main clinical features
  • 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
  • lax, redundant skin, ectropion, bulbous nose, macrostomia, and absence of mammary glands
  • Genetic determination autosomal dominant
    Function/system disorder dermatology
    Type disease
  • mutations leading to alteration in p.Glu75 of TWIST2 alter the DNA-binding activity of TWIST2, leading to both dominant-negative and gain-of-function effects (PMID: 26119818))