Definition

What is Barber Say syndrome?

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).

How common is Barber Say syndrome?

Barber Say syndrome is extremely uncommon. 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. Please discuss with your doctor for further information.

Symptoms

What are the symptoms of Barber Say syndrome?

The common symptoms of Barber Say syndrome are:

  • Anteverted nares
  • Aplasia/Hypoplasia of the eyebrow
  • Aplasia/Hypoplasia of the skin
  • Bulbous nose
  • Delayed eruption of teeth
  • Ectropion
  • Failure to thrive
  • Generalized hirsutism
  • Hearing impairment
  • Hypertelorism
  • Redundant skin
  • Sparse or absent eyelashes
  • Telecanthus
  • Wide mouth
  • Wide nasal bridge
  • Breast aplasia
  • Hyperextensible skin
  • Hypoplastic nipples
  • Ablepharon
  • Abnormality of the pinna
  • Atresia of the external auditory canal
  • High, narrow palate
  • Intellectual disability
  • Micrognathia
  • Shawl scrotum
  • Abnormality of female external genitalia
  • Abnormality of male external genitalia
  • Autosomal dominant inheritance
  • Dermal atrophy
  • Dry skin
  • Hypertrichosis
  • Low-set ears
  • Mandibular prognathia
  • Sparse and thin eyebrow
  • Thin vermilion border
  • Underdeveloped nasal alae

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you or your loved one has any signs or symptoms listed above or has any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What 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

Risk factors

What increases my risk for Barber Say syndrome?

Please consult with your doctor for further information.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is Barber Say syndrome diagnosed?

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

How is Barber Say syndrome treated?

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.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Barber Say syndrome?

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Sources

Review Date: January 25, 2018 | Last Modified: January 25, 2018

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