Apert Syndrome

Definition

Definition of Apert Syndrome
Apert syndrome is a form of acrocephalosyndactyly, a congenital disorder characterized by malformations of the skull, face, hands and feet. It is classified as a branchial arch syndrome, affecting the first branchial (or pharyngeal) arch, the precursor of the maxilla and mandible. Disturbances in the development of the branchial arches in fetal development create lasting and widespread effects.

Symptoms

Symptoms of Apert Syndrome

1. Early closure of sutures between bones of the skull, noted by ridging along sutures
2. Frequent ear infections
3. Fusion or severe webbing of the 2nd, 3rd, and 4th fingers, often called "mitten hands"
4. Hearing loss
5. Large or late-closing soft spot on a baby's skull
6. Possible, slow intellectual development (varies from person to person)
7. Prominent or bulging eyes
8. Severe under-development of the mid-face
9. Skeletal (limb) abnormalities
10. Short height
11. Webbing or fusion of the toes

Causes

Causes of Apert Syndrome
Acrocephalosyndactyly may be an autosomal dominant disorder. Males and females are affected equally; however research is yet to determine an exact cause. Nonetheless, almost all cases are sporadic, signifying fresh mutations or environmental insult to the genome. The offspring of a parent with Apert syndrome has a 50% chance of inheriting the condition. In 1995, A.O.M. Wilkie published a paper showing evidence that acrocephalosyndactyly is caused by a defect on the fibroblast growth factor receptor 2 gene, on chromosome 10.

Diagnosis

Diagnosis of Apert Syndrome
The doctor will perform a physical exam. Hand, foot, and skull x-rays will be done. Hearing tests should always be performed.

Treatment

Treatment of Apert Syndrome
Treatment consists of surgery to correct abnormal bone growth. Children with this disorder should be examined by a specialized craniofacial surgery team at a children's medical center.

Prognosis

Prognosis of Apert Syndrome
Consult with your doctor.

Prevention

Prevention of Apert Syndrome
Genetic counseling may be helpful if you have a family history of this disorder and are planning to become pregnant. Your doctor can test your baby for this disease during pregnancy.