Health Topics A-Z

  1. Home
  2. Health
  3. Health Topics A-Z

From About.com

About.com Health's Disease and Condition content is reviewed by our Medical Review Board

ENCYCLOPEDIA INDEX
Injury Disease Nutrition Poison Symptoms Surgery Test Special Topic
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Apert syndrome

Overview Symptoms Treatment Prevention
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 and/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.
Syndactyly
Syndactyly
adam.com

Explore Health Topics A-Z

About.com Special Features

Health Topics A-Z

  1. Home
  2. Health
  3. Health Topics A-Z

©2009 About.com, a part of The New York Times Company.

All rights reserved.