This is a rare genetic defect caused by a deletion in a certain chromosome material.

cause

Deletion 8q23.2 to q24.1.

Symptoms

Mild to Moderate learning difficulties, short stature, unique facial features, small head and skeletal abnormalities including bony growths projecting from the surfaces of bones, fine scalp hair, ears may be large or prominent , a bulbous nose, broad eyebrows, deep-set eyes

Diagnosis

This is diagnosed by cytogenetic testing.

Treatment

There is no exact treatment for this disease, symptomatic treatments can be used for limb and face reconstructions.