Arthrogryposis and ectodermal dysplasia

Synonyms

5

Overview

Arthrogryposis, an unusual type of ectodermal dysplasia, growth retardation of prenatal onset, and diabetes mellitus were all present in the proposita and are unlikely to have arisen all independently. The combination of at least some of these abnormalities may represent a distinct syndrome.

Symptoms

• Curved fifth finger
• Reduced body hair
• Dry skin
• Fine hair
• Insulin-dependent diabetes

Causes

The cause is unknown, although several mechanisms have been suggested. This includes hyperthermia of the fetus, prenatal virus, fetal vascular compromise, septum of the uterus, decreased amniotic fluid, muscle and connective tissue developmental abnormalities.In general, the causes can be classified into extrinsic and intrinsic factors.

Diagnosis

To date, no prenatal diagnostic tools are available to test for the condition. Diagnosis is only used to rule out other causes. This is done by undertaking muscle biopsies, blood tests and general clinical findings rule out other disorders and provides evidence for AMC.

Resources

• NIH