Apert syndrome

Alternative names:

acrocephalosyndactyly type 1

Symptoms:

• one or both parents with Apert syndrome
• skeletal (limb) abnormalities
• early closure of bony sutures of the skull, noted by ridging along sutures and lack of flexing
• unusual facial appearance from severe mid-face hypoplasia
• fusion or severe webbing of several adjacent fingers and toes -- severe syndactyly is often called "mitten hands"
• variable retardation with intellectual development

Signs and tests:

A skull X-ray that demonstrates premature closure and a clinical exam confirm the diagnosis.