Acrocephalosyndactyly
    
Share |
 
  

Diseasereference.net - Comprehensive articles covering over 1,700 topics. The articles are organized by the disease, condition overview, symptoms, treatment, and prevention.


Drugs search, click the first letter of a drug name:
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 | 1 | 2 | 3 | 4 | 5 | 6 | 8 | 9

Terms search, click the first letter of a term name:
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

Online medical services

Medical dictionary Med-Terms.net is a searchable dictionary of medical terms from medicine and related fields. Search for medical terms with our medical dictionary.

Drugs & Medications Search our drug database for comprehensive prescription and patient information on 24,000 drugs online. Drugspedia.net - The Internet Drug Index for prescription drugs and medications.

PMS blog Premenstrual syndrome (PMS), PMS headache


Blue waffles disease, blog. Blue waffle infection, blue waffle disease pictures.

  

 

Disease Reference

Click on the first letter in the disease name:

| 4 | 5 | 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



     

Acrocephalosyndactyly

Definition

Apert syndrome is a genetic disease in which the seams between the skull bones close earlier than normal. This affects the shape of the head and face.

Alternative Names

Acrocephalosyndactyly

Causes

Apert syndrome can be passed down through families (inherited). The syndrome is inherited as an autosomal dominant trait, which means that only one parent needs to have the condition for a child to be affected.

Some cases may occur without a known family history.

Apert syndrome is caused by mutations in a gene called fibroblast growth factor receptor 2. This gene defect causes some of the bony sutures of the skull to close too early, a condition called craniosynostosis. Persons with this syndrome have a distinctive looking face, and there may be full-length webbing or fusion between the 2nd, 3rd, and 4th fingers, as well as the toes. As the child grows, the bones in the hands and feet become progressively fused, which reduces flexibility and function.

Several other syndromes have a similar appearance and include craniosynostosis. They include:

  • Carpenter syndrome (kleeblattschadel, cloverleaf skull deformity)
  • Crouzon disease (craniofacial dysostosis)
  • Saethre-Chotzen syndrome
  • Pfeiffer syndrome

Symptoms

  • 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.

Treatment

The patient should be evaluated by a multispecialty cranio-facial surgery team at a children's medical center. Treatment consists of surgery to correct abnormal bone growth of the skull, mid-face, and jaw area.

A hearing specialist should be consulted if there are hearing problems.

Support Groups

Children's Craniofacial Association -- www.ccakids.com

Outlook (Prognosis)

The prognosis varies from child to child.

Possible Complications

Other birth defects may exist. Each child should be evaluated on an individual basis.

When to Contact a Medical Professional

Call your health care provider if you have a family history of Apert syndrome or you notice asymmetric growth of the skull in your baby.

Prevention

Genetic counseling may be of value to prospective parents. Prenatal diagnosis is available.

Email to a Friend


Your Name:

Friend's Email:



More about Acrocephalosyndactyly - Drugs.com
   Acrocephalosyndactyly
Allergic rhinitis
Arrhenoblastoma
Aase syndrome
Williams syndrome
Abscess - Bartholins
Arterial embolism
Anhidrotic ectodermal dysplasia
Apnea - sleep apnea syndrome
Anemia - hemolytic



 
  
Medical dictionary | Natural mosquito repellents | Dust mites pictures | Prescription Drug Information | new 401k rules | Hyperkeratosis pilaris treatment
© Copyright by Diseasereference.net 2006-2007. All rights reserved