Paula and Bobby
Parents of Lillie
What is Barber-Say syndrome?
This rare disease is a congenital condition with fewer than 20 patients diagnosed worldwide, to date.
It’s most common feature is excessive hair growth, especially on the back of affected individuals. The syndrome also presents with unique facial features, thin skin and deafness.
This syndrome is also known as:
Barber-Say syndrome Hypertrichosis; Atrophic Skin, Ectropion, And Macrostomia
What gene changes cause Barber-Say syndrome?
Mutations in the TWIST2 gene are responsible for the condition. There is some debate and ongoing research into how the mutation is inherited, although research suggests some evidence of inheritance in an autosomal dominant pattern.
In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.
What are the main symptoms of Barber-Say syndrome?
Excessive hair growth is a major feature of the condition. As is weak and thin skin, and delayed tooth eruption. Individuals may fail to thrive. Deafness is also common.
Unique facial and physical features of the syndrome include outward turned eyelids, absent eyebrows and wide-set eyes. A large and broad mouth are also common features.
Possible clinical traits/features:
Telecanthus, Sparse and thin eyebrow, Autosomal dominant inheritance, Wide mouth, Shawl scrotum, Thin vermilion border, Abnormal eyelash morphology, Aplasia/Hypoplasia of the nipples, Aplasia/Hypoplasia of the eyebrow, Breast aplasia, Bulbous nose, Abnormality of the pinna, Hyperextensible skin, High palate, Hearing abnormality, Underdeveloped nasal alae, Hypoplastic nipples, Hearing impairment, Hypertrichosis, Hypertelorism, Low-set ears, Mandibular prognathia, Redundant skin, Anteverted nares, Intellectual disability, Abnormality of male external genitalia, Abnormality of female external genitalia, Micrognathia, Dry skin, External ear malformation, Atresia of the external auditory canal, Cutis laxa, Delayed eruption of teeth, Dermal atrophy, Ectropion
How does someone get tested for Barber-Say syndrome?
The initial testing for Barber-Say syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
Medical information on Barber-Say syndrome
The girl reported by Barber et al., (1982) was striking in appearance, due mainly to ectropions and generalised lax skin. She was hirsute and had malformed pinnae, a small jaw, marked telecanthus and a very thin upper lip. Her skin at 3 years was atrophic, her hair dark and coarse and she was short. Her broad bulbous nose and wrinkled lax skin gave an appearance of premature ageing. Her IQ was borderline normal. Other useful diagnostic features were tortuous narrow external auditory canals and a harsh quality to the voice. A skin biopsy showed changes of senility with dermal atrophy. There are many similarities to ablepharon-macrostomia syndrome (qv), however, eyelids are absent in that condition and there is congenital alopecia with later development of only sparse and thin hair. It should be noted that Pellegrino et al., (1996) reported a case of ablepharon macrostomia with a complex rearrangement of the long arm of chromosome 18. Cesarino et al., (1988), David et al., (1991) and Martinez Santana et al., (1993) reported further cases and reviewed the literature. Sod et al., (1997) reported a possible milder case without ectropion. A further case was reported by Mazzanti et al., (1998). Dinulos and Pagon (1999) reported a convincingly affected mother and son. The mother also had a cleft palate and the son was noted to have a shawl scrotum. Roche et al., (2010) reported a father and daughter.
Note the patient reported by Haensel et al., (2009) with microblepharon and conductive hearing loss. These authors noted the similarities to 'ablepharon macrostomia syndrome' - see elsewhere.
A case reported by Suga et al., (2014) had a micro-penis and ambiguous genitalia. There were also yellow-White plaques in the subretinal area.
Mutations have now been found in this syndrome and in Barber-Say syndrome in TWIST2 (Marchegiani et al., (2015). The 2 syndromes differ in that in ablepharon-macrostomia in lysine at residue 75 was common, whereas in Barber-Say a glutamine or alanine was the cause.
Singh et al. (2016) described a family (a father and a daughter) with Barber-Say syndrome and reviewed the literature on the previously reported cases. The father was mosaic for a previously reported mutation, E75Q, in TWIST2. Clinical features were marked hypertrichosis, redundant skin, ocular telecanthus, eyelid ectropion, microblepharon, sparse eyebrows, bulbous nose, macrostomia, abnormal ears, and hypoplastic nipples. The father showed milder phenotype with macrostomia, coarse facial features and large bulbous nose. The clinical characteristics of previously reported 42 patients included hypertrichosis in 41, redundant skin in 39, telecanthus in 37, abnormal ears in 37, hypoplastic or absent nipples in 29, eyelid ectropion in 27, sparse eyebrows in 27 and microblepharon in 9 patients. All patients presented with abnormal bulbous nose and macrostomia.
* This information is courtesy of the L M D.
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