Barber Say syndrome

Alternate names

Hypertrichosis, atrophic skin, ectropion, and macrostomia; Hypertrichosis atrophic skin ectropion macrostomia

Definition

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).

Epidemiology

It has been described in less than 20 patients in the medical literature.

Cause

A recent study suggests that at least some cases of Barber Say syndrome are caused by dominant mutations in the TWIST2 gene.

Inheritance

Inheritance has been debated, with qualities suggestive of autosomal dominant and autosomal recessive.

Signs and symptoms

This condition is characterized by the association of excessive hair growth (hypertrichosis), papery thin and fragile (atrophic) skin, outward turned eyelids (ectropion) and a large mouth (macrostomia).

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

• Anteverted nares(Nasal tip, upturned)
• Aplasia/Hypoplasia of the eyebrow(Absence of eyebrow)
• Aplasia/Hypoplasia of the skin(Absent/small skin)
• Bulbous nose
• Delayed eruption of teeth(Delayed eruption)
• Ectropion(Eyelid turned out)
• Failure to thrive(Faltering weight)
• Generalized hirsutism(Excessive hairiness over body)
• Hearing impairment(Deafness)
• Hypertelorism(Wide-set eyes)
• Redundant skin(Loose redundant skin)
• Sparse or absent eyelashes
• Telecanthus(Corners of eye widely separated)
• Wide mouth(Broad mouth)
• Wide nasal bridge(Broad nasal bridge)

30%-79% of people have these symptoms

• Breast aplasia(Absent breast)
• Hyperextensible skin(Hyperelastic skin)
• Hypoplastic nipples(Small nipples)

5%-29% of people have these symptoms

• Ablepharon(Absent eyelids)
• Abnormality of the pinna(Abnormally shaped ears)
• Atresia of the external auditory canal(Absent ear canal)
• High, narrow palate(Narrow, high-arched roof of mouth)
• Intellectual disability(Mental deficiency)
• Micrognathia(Little lower jaw)
• Shawl scrotum(Scrotum surrounds penis)

Treatment

Treatment remains a challenge for both patients and doctors, and requires a multidisciplinary approach.

NIH genetic and rare disease info

• NIH info on Barber Say syndrome

Barber Say syndrome is a rare disease.

Barber Say syndrome Resources
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