Barber Say Syndrome

Barber Say Syndrome

Barber Say syndrome (BSS) is a rare disease

Its an ectodermal dysplasia characterized by the below features

  • Skin Atrophy
  • Congenital generalized hypertrichosis.
  • Ectropion
  • Microstomia


  • Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome

How common is Barber Say Syndrome?

This condition occurs in <1/1000000

As on date, this rare condition is described in less than twenty patients roughly around eleven patients.

What is the inheritance pattern?

Autosomal dominant or Autosomal recessive or Not Applicable

Age of onset: 

Usually the age of onset of this condition is Neonatal

Clinical Features

Barber Say syndrome has a variable presentation.

Both mild and severe cases have been reported.

The clinical characteristics of Barber Say Syndrome are

  • Congenital generalized hypertrichosis
  • facial dysmorphism
  • hyperlaxity and redundancy of the skin with deep folds,
  • nipple hypoplasia
  • absence of mammary glands.
  • Teeth are present, but with overgrown gingiva.

The facial dysmorphism of this condition typically comprises the below features

  • Bilateral ectropion
  • absent or sparse eyebrows and lashes
  • hypertelorism/telecanthus
  • broad nasal bridge
  • bulbous nose
  • anteverted nostrils
  • macrostomia
  • thin lips
  • misshapen ears

What are the Dental abnormalities due to this condition?

Dental abnormalities of this condition includes the below

  • taurodontism
  • shovel-shaped incisors
  • delayed eruption of deciduous dentition
  • premature apical closure

What are the less common clinical features of this condition?

  • Cleft palate
  • hearing loss
  • mild psychomotor delay
  • genital abnormalities

What causes Barber Say Syndrome?

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

Autosomal dominant and autosomal recessive transmission

Sporadic cases have been reported as well.

What are the Symptoms of Barber Say Syndrome?

The principal four cardinal symptoms of this condition are the below

  1. Hypertrichosis – which is the excessive hair growth
  2. Atrophic Skin – Papery thin and fragile skin
  3. Ectropion – Outwardly turned eyelids
  4. Macrostomia – Large Mouth

Very Common Symptoms

  • Abnormality of the face 
  • 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

Common Symptoms

  • Breast aplasia
  • Hyperextensible skin 
  • Hypoplastic nipples 

Occasional Symptoms

  • Ablepharon 
  • Abnormality of the pinna 
  • Atresia of the external auditory canal
  • Shawl scrotum

How is this condition treated?

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

Research Studies on Barber Say Syndrome

A case of Barber Say Syndrome in a male Japanese newborn

Distinctive features of Barber Say Syndrome were found in this case

  • macrostomia
  • gingival dysplasia
  • cup-shaped low-set ears
  • wrinkling redundant skin
  • hypertrichosis.
  • Fundus showed subretinal drusenoid deposits, a novel finding of Barber Say Syndrome.
  • Genetic analysis is underway using next-generation genome sequencing and microarray analysis.

A literature review study showed less than 20 previously reported cases of Barber Say syndrome.

This presentation reports a one day old female with the below clinical features. These findings are consistent with Barber Say syndrome.

  • syndrome face
  • low hairline
  • coarse face
  • macrostomia
  • thin upper lip
  • bilateral ectropion and hypertelorism
  • hypertrichosis
  • senile skin appearance
  • hypoplastic nipples
  • one area of mild skin atrophy


Barber-Say syndrome


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