Ablepharon macrostomia syndrome - rare genetic disorder characterized by physical abnormalities

Ablepharon macrostomia syndrome is an uncommon inherited hereditary disorder characterized by various physical problems affecting the head and facial area, skin, the fingers, and the genitals and features with delayed language development. Hearing loss, poor hair growth, and growth retardation are also chronic problems.


Ablepharon Macrostomia Syndrome, is an extremely rare genetic disorder characterized by physical abnormalities.The cause of this disease is unknown. It is a hereditary disease. It can be inherited as an autosomal trait of the recessive gene. Abnormalities of the eyes may occur due to, or in association with, ablepharon or microblepharon.


It is characterized by physical abnormalities that affect the face, rind, fingers, and the genitals. Ablepharon macrostomia syndrome affected people may include absent or abnormally small nipples and abnormal abdominal wall, abnormal genitalia, wide mouth, small nostrils, small penis. Other symptoms are slow growth and in some cases, mental retardation, thin hair or poor hair growth, hearing loss, dry and wrinkled skin with excess (redundant) folds, webbed fingers, delays in language development, absence and underdevelopment of the eyelids and absence of eyelashes and eyebrows, small ears, large mouth etc.


There is no single course of medical treatment for Ablepharon macrostomia syndrome. Surgery is the most important treatment. It can correct crossed eyes, and other deformities. Nutritional food will help to improve health condition. Physical, occupational and speech therapy can improve their physical and mental health and also help to control of speaking and eating abilities. Frequent lubrication with eye drops is sufficient to combat dry eye resulting from impaired blinking. Plastic surgery may permit reconstruction of the eyelids, external ears and mouth and zygomatic arches may be remodelled by implantation of subcutaneous prostheses. Chin and breast hypoplasia can also be treated by plastic surgery.


Genetic counseling is the only preventive method for Ablepharon macrostomia syndrome.

Alternative therapy:

Nutritional and dietary food including vitamins will help to reduce complications and to improve health.


1 comment:

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