In 1982, N. Barber et al described a new syndrome that he first observed in a 3.5-year-old girl. Barber-Say syndrome is an extremely rare congenital disorder characterized by ectropion (outwardly turned eyelids), macrostomia, skin atrophy, severe hypertrichosis (excessive hair growth) and often retarded growth. Numerous other symptoms are possible with this syndrome. Treatment remains a challenge for both patients and physicians, and requires a multidisciplinary approach.
- Clinical overlap
- Epidemiology condition
- Causes and heredity Barber Say syndrome
- Symptoms: Abnormalities in hair, mouth, eyes and ears
- Diagnosis and examinations
- Therapy
- Disease prognosis
Clinical overlap
Ablepharon-macrostomy syndrome (AMS) is a similar but apparently different condition. AMS patients have ablepharon or microblepharon instead of ectropion and they often also suffer from more serious genital abnormalities. Barber-Say and Ablepharon macrostomia syndrome may be linked by the same gene error, but further research into this remains to be done.
Epidemiology condition
Barber Say syndrome is an extremely rare congenital condition. The medical literature mentions only a dozen patients worldwide. The prevalence is therefore <1/1,000,000. It appears that mainly women are affected, but the numbers of affected patients are so low that this is not significant. The associated AMS syndrome mainly affects men, but this may be coincidental and further studies are needed.
Causes and heredity Barber Say syndrome
The cause of this syndrome has not yet been determined. The condition is inherited in an autosomal dominant and autosomal recessive manner.
Symptoms: Abnormalities in hair, mouth, eyes and ears
A lot of symptoms are possible with this syndrome. However, there are some primary symptoms such as excessive hair growth (hypertrichosis or hirsutism), a large mouth (macrostomy), skin abnormalities and ectropion.
Hairiness
The excessive hair growth is usually of a severe nature and is mainly located on the back.
Skin
The atrophic skin is thin, fragile, dry and saggy, which often makes the patient look older than he actually is.
Eyes
In addition to bilateral ectropion, a number of eye abnormalities are possible: corneal clouding, variable nystagmus, bilateral microblepharon, missing eyebrows and eyelids, widely spaced eyes (medical term: “hypertelorism) and telecanthus (too large distance between the two inner corners of the eye). Other atypical facial features of the Barber-Say syndrome outside macrostomia may include a bulbous nose with a wide nasal bridge that points forward, thin lips, small and underdeveloped teeth, and a triangular face.
Additional symptoms
ear abnormalities are also possible. The patient then has cup-shaped ears, small tortuous external auditory canals and exhibits mild hearing loss. Finally, patients sometimes have hypoplastic (underdeveloped) nipples, lack of mammary glands, and have large labia. In general, these patients have growth and mental retardation.
Diagnosis and examinations
The diagnosis is made by determining the primary main symptoms, in which excessive hair growth and eye abnormalities stand out and are different from the AMS syndrome.
Therapy
There is no proven effective treatment available for this syndrome, but the doctor treats the symptoms through a variety of therapies. Sometimes plastic surgery is required.
Disease prognosis
No information is known regarding the prognosis of this syndrome.
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