Apert syndrome

Injury	Disease	Nutrition	Poison

Symptoms	Surgery	Test	Special Topic

Syndactyly

Apert syndrome

Alternative Names:

Acrocephalosyndactyly
Symptoms:

Family history of Apert syndrome
Skeletal (limb) abnormalities
Early closure of sutures between bones of the skull, noted by ridging along sutures
Large or late-closing soft spot on a baby's skull
Unusual facial appearance resulting from severe under-development of the mid-face
Prominent or bulging eyes
Fusion or severe webbing of several adjacent fingers and toes (severe syndactyly), often called "mitten hands"
Intellectual development may be retarded to varying degrees
Short stature
Hearing loss
Frequent ear infections

Signs and tests:

A skull x-ray which demonstrates premature closure and a clinical exam can confirm the diagnosis of craniosynostosis (premature fusion of skull sutures). Hand or foot x-rays are also very important to determine the extent of bone problems. A genetic test for mutations in the fibroblast growth factor receptor 2 gene can confirm the diagnosis of Apert syndrome. Hearing tests should also always be given.