Learn about BarberSay . syndrome

BarberSay syndrome is a rare medical condition. The disease causes characteristic manifestations of the combination of excessive hair growth causing hirsutism, abnormally thin skin. At the same time, children with the disease cause the eyelids to turn out and the mouth to become wider.

1. Causes of BarberSay's Syndrome

Currently, scientists have not found the exact cause of the disease, there are still many controversies raised. Many argue that the cause is genetic in terms of dominant and recessive genes. Recent studies have shown that at least some cases of BarberSay syndrome are caused by dominant heterozygous mutations in the TWIST 2 gene (607,556) on chromosome 2q37.

2. Symptoms of BarberSay . Syndrome

tim-hieu-ve-hoi-chung-barbersay-1 — Lông rậm là biểu hiện điển hình của hội chứng BarberSay

When you have BarberSay syndrome you can experience some of the most common facial signs and symptoms such as
Inverted eyelids Upturned nostrils Full body hair Slower teething Hypoplasia or aplasia of eyebrows Excess skin Mouth wide Flat nose bridge. Some of the skin signs caused by BarberSay syndrome such as:
Excess skin Overly stretched skin Nipple hypoplasia High and narrow palate Abnormal skin of the scrotum There are also some characteristic abnormalities in the genitals external sex in both men and women. Children with BarberSay syndrome cause abnormalities related to the skull, skin or fingers, low ears, abnormally thin lip ridges or underdeveloped nose wings...
In addition, children with the disease may also experience Some unusual signs and symptoms are rarely mentioned because of their uncommonness.

3. Diagnosis and treatment of BarberSay . syndrome

tim-hieu-ve-hoi-chung-barbersay-2 — Chẩn đoán hội chứng BarberSay

Diagnosis of BarberSay syndrome is based on the appearance of clinical features:
Hirsutism Wide mouth with thin lip ridges Abnormal shape of ears and nose Abnormal distance between corners and tail of eyes Excess skin The treatment of BarberSay syndrome challenges for both patients and doctors. As this is a rare disease, managing the condition requires a multidisciplinary approach.
Currently, there is no cure for the disorder that causes this condition. The doctor can prescribe the repair of deformities such as: drooping eyelids or cleft palate caused by BarberSay syndrome.
If you or your loved one has any of the above signs or symptoms of BarberSay syndrome, please consult your doctor. Everyone's body is different. So consult your doctor to choose the most suitable method.

Để đặt lịch khám tại viện, Quý khách vui lòng bấm số HOTLINE hoặc đặt lịch trực tiếp TẠI ĐÂY. Tải và đặt lịch khám tự động trên ứng dụng MyVinmec để quản lý, theo dõi lịch và đặt hẹn mọi lúc mọi nơi ngay trên ứng dụng.

SEE ALSO
What disease does abnormal hairiness warn of? Degos: Rare disease Fabry - Rare disease

XEM THÊM:

Bài viết này được viết cho người đọc tại Sài Gòn, Hà Nội, Hồ Chí Minh, Phú Quốc, Nha Trang, Hạ Long, Hải Phòng, Đà Nẵng.