Barber Say syndrome
Barber-Say syndrome is a very rare syndrome characterized primarily by excessive hair growth, skin anomaly, large mouth and outward turned eyelids (ectropion).
The list of signs and symptoms mentioned in various sources for Barber-Say syndrome includes the 12 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
- Widely spaced eyes
Barber Say syndrome is caused by heterozygous mutation in the TWIST2 gene (607556) on chromosome 2q37.
Diagnosis is based on the presence of clinical features:
- Macrostomia with thin vermilion of the lips
- Abnormally shaped nose and ears
- Ocular telecanthus
- Redundant skin
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.
There is no known treatment for this disorder but correction of selected anomalies such as ectropion and cleft palate may be indicated.