Apert syndrome


Apert syndrome

Description, Causes and Risk Factors:

Apert syndrome is a congenital condition and falls under the broad classfication of craniofacial/limb anomalies. Apert syndrome causes abnormal growth of several bones in the body, primarily the skull, midface, hands, and feet.

Apert syndrome is caused by mutations in a gene called fibroblast growth factor receptor 2 (FGFR-2). The condition results from a specific missense mutation in the gene-encoding fibroblast growth factor receptor-2 (FGFR-2), mapped to 10q26 chromosome. This pleiotropic gene is involved in the complex intercellular signaling network that controls cell proliferation, differentiation, migration, and survival in many different contexts, including embryonic development, angiogenesis, and malignancy. Mutations of the FGFR-2 gene have also been associated with several other craniosynostosis malformation syndromes, including Crouzon, Jackson-Weiss, Pfeiffer, and Beare-Stevenson cutis gyrata syndromes. Most cases of Apert syndrome are sporadic, while autosomal dominant transmission and germinal mosaicism have also been reported. The paternal origin of new mutations, specifically related to age effect, has been elucidated.

Apert syndrome

This gene defect causes some of the bony sutures of the skull to close too early, a condition called craniosynostosis. The syndrome can be inhertied from a parnet who has Apert's syndrome, or may be a fresh mutation. It occurs in approximatley 1 per 160,000 to 200,000 live birth. When you have Apert syndrome, you have a 50% chance of passing this condition to your child.

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 pass on the faulty gene for a child to have the condition.

Some cases may occur without a known family history.

Symptoms:

    Early closure of sutures between bones of the skull, noted by ridging along sutures.

  • Frequent ear infections.

  • Fusion or severe webbing of the 2nd, 3rd, and 4th fingers, often called "mitten hands."

  • Hearing loss.

  • Large or late-closing soft spot on a baby's skull.

  • Possible, slow intellectual development (varies from person to person).

  • Prominent or bulging eyes.

  • Severe under-development of the mid-face.

  • Skeletal (limb) abnormalities.

  • Short height.

  • Webbing or fusion of the toes.

Several other syndromes can lead to a similar appearance of the face and head, but do not include the severe hand and foot problems of Apert syndrome. These similar syndromes include:

    Carpenter syndrome (kleeblattschadel, cloverleaf skull deformity).

  • Crouzon disease (craniofacial dysostosis).

  • Pfeiffer syndrome.

  • Saethre-Chotzen syndrome.

Diagnosis:

To diagnose this condition, your doctor will examine your child's skull carefully. Your child's facial features will help the doctor determine whether they have Apert syndrome or another condition.The shape will help the doctor tell whether any sutures have fused.

    Computed tomography (CT) imaging can give the doctor more information.

  • A CT scan is an X-ray procedure that takes a computer-enhanced cross-sectional view of the body.

  • Your child may need X-rays of their spine, arms, hands, legs, and feet, to confirm the diagnosis.

  • Your doctor may also recommend genetic tests that show whether your child has a mutation that causes Apert syndrome.

Treatment:

Treatment consists of surgery to correct abnormal bone growth. Children with this disorder should be examined by a specialized craniofacial surgery team at a children's medical center. A hearing specialist should be consulted if there are hearing problems.

NOTE: The above information is for processing purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.

DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.

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