Apert syndrome
Alternative Names
AcrocephalosyndactylySymptoms
- 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
- Severe under-development of the mid-face
- Prominent or bulging eyes
- Fusion or severe webbing of the 2nd, 3rd, and 4th fingers, often called "mitten hands"
- Webbing or fusion of the toes
- Possible, slow intellectual development (varies from person to person)
- Short height
- Hearing loss
- Frequent ear infections
Exams and Tests
A skull x-ray and physical exam can confirm the diagnosis of craniosynostosis.
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 performed.
A.D.A.M., Inc. is accredited by
URAC, also known as the American
Accreditation HealthCare Commission. URAC's accreditation program is
the first of its kind, requiring compliance with 53 standards of quality and
accountability, verified by independent audit.
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. Copyright 2005 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.