Apert’s syndrome: Treatment, symptoms, advice and help

About apert’s syndrome

Apert’s syndrome is a rare genetic disorder resulting in anomalies of the skull, face and the limbs. It is also known by the name of ‘cranio-facial disorder’. This occurs due to premature closure of theseams of the skull bones thus preventing its normal growth.

Apert’s Syndrome: Incidence, age and sex

Apert’s syndrome is an extremely rare condition in the general population. No gender bias is present. It is seen equally in men and women.

Signs and symptoms of apert’s syndrome: Diagnosis

Children born with apert’s syndrome have typical physical characteristics of the head, the face, the fingers and the toes. An affected individual may have a small head with wide set and bulging eyes. The nose is short resulting in obstruction of airways in some instances. The middle part of face may be concave looking. Some fingers or toes may be fused together, giving a webbed appearance. Very occasionally, all the fingers or toes may be fused. Other features include hearing loss, repeated ear infections and heavy sweating. Most of the affected individuals may show intellectual impairment.

Causes and prevention of apert’s syndrome

It is an autosomal dominant genetic disorder which occurs due to mutation in FGFR2 gene. This is hereditary and may pass on to the next generation. A child born to a man of more than 50 years of age stands at a higher risk of apert’s syndrome.

Apert’s Syndrome: Complications

Apert’s syndrome may lead to some complications like dental problems due to over crowding of teeth. Impairment in vision may also happen due to shallow eye sockets. Fused fingers and toes may result in limited their flexibility.

Apert’s Syndrome: Treatment

Apert’s syndrome is easily diagnosed at birth due to its characteristic physical traits. It is an incurable disorder. Some surgical procedures of separation of bones may be considered to help in growth of bones. Such surgical corrections are usually done at the stage of childhood. Multi-disciplinary approaches including dentist, eye specialist, speech therapist and surgeon may be needed for adequate management of complications.