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Barber Say syndrome

BSS, Hypertrichosis, atrophic skin, ectropion, and macrostomia, Hypertrichosis atrophic skin ectropion macrostomia

Overview

Barber Say syndrome is a very rare condition characterized by the association of excessive hair growth (hypertrichosis), papery thin and fragile (atrophic) skin, outward turned eyelids (ectropion) and a large mouth (macrostomia). It has been described in less than 20 patients in the medical literature. Barber Say syndrome has a variable presentation, with reports of both mild and severe cases.

Symptoms - Barber Say syndrome

The list of signs and symptoms mentioned in various sources for Barber-Say syndrome symptoms listed below:

  • Outward turned eyelids
  • Large mouth
  • Excessive body hair growth
  • Retarded growth
  • Atrophic skin
  • Loose skin
  • Bulbous nose
  • Absence of mammary glands
  • Delayed tooth eruption
  • Facial dysmorphism
  • Telecanthus
  • Widely spaced eyes

Causes - Barber Say syndrome

 Inheritance has been debated, with qualities suggestive of autosomal dominant and autosomal recessive. A recent study suggests that at least some cases of Barber Say syndrome are caused by dominant heterozygous mutations in the TWIST2 gene  (607556) on chromosome 2q37.

Prevention - Barber Say syndrome

Not supplied.

Diagnosis - Barber Say syndrome

Diagnosis is based on the presence of clinical features:

  • Hypertrichosis
  • Macrostomia with thin vermilion of the lips
  • Abnormally shaped nose and ears
  • Ocular telecanthus
  • Redundant skin

Prognosis - Barber Say syndrome

Barber Say syndrome has a variable presentation, with reports of both mild and severe cases. Although these patients survive and most of them have normal psychomotor development, their aesthetic and social impairment, due to the craniofacial anomalies and generalized hypertrichosis, can sometimes be very debilitating.

Treatment - Barber Say syndrome

Treatment remains a challenge for both patients and doctors, and requires a multidisciplinary approach. There is no known treatment for this disorder but correction of selected anomalies such as ectropion and cleft palate may be indicated.

Resources - Barber Say syndrome

  • NIH
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