Apert syndrome

What is Apert syndrome?

Apert syndrome is a genetic disorder characterized by the premature fusion of certain bones of the skull (craniosynostosis), which prevents further growth of the skull and affects the shape of the head and face. In addition, a varied number of fingers and toes are fused together (syndactyly).

Many of the characteristic facial features of Apert syndrome result from the premature fusion of the skull bones. The head is unable to grow normally, which leads to a sunken appearance in the middle of the face, bulging and wide-set eyes, a beaked nose, and an underdeveloped upper jaw leading to crowded teeth and other dental problems. Shallow eye sockets can cause vision problems. Hearing loss may be present. Recurrent ear infections are common and may be associated with an opening in the roof of the mouth (cleft palate). Acne can be severe. Additionally, individuals with Apert syndrome have webbed or fused fingers and toes. The severity of the fusion varies; at a minimum, three digits on each hand and foot are fused together. In the most severe cases, all of the fingers and toes are fused. Intellectual development also varies, ranging from normal to mild or moderate mental retardation.

How common is Apert syndrome?

Apert syndrome affects about 1 in 100,000 individuals.

What genes are related to Apert syndrome?

Mutations in the FGFR2 gene cause Apert syndrome.

The FGFR2 gene produces a protein called fibroblast growth factor receptor 2. Among its multiple functions, this protein signals immature cells to become bone cells in a developing embryo and fetus. A mutation in a specific part of the FGFR2 gene alters the protein and causes prolonged signaling, which can promote the premature fusion of bones in the skull, hands, and feet.

How do people inherit Apert syndrome?

Apert syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Almost all cases of Apert syndrome result from a sporadic new mutation, meaning neither parent has the disorder. Individuals with Apert syndrome, however, can pass along the disorder to the next generation.

Apert Syndrome on Wikipedia

'''Apert Syndrome''', virtually synonymous with '''Acrocephalosyndactyly''', is a branchial arch syndrome, characterized by a number of clinical features, resulting from a developmental anomaly. Specifically, this syndrome affects the first branchial arch (or pharyngeal) arch, which is the precursor of the maxilla and mandible. Since the branchial arches are important developmental features in a growing embryo, disturbances in its development create lasting and widespread effects.

Overview

In 1906, Eugčne Apert, a French physician, first described nine people with a similar disorder. Since he was the first to do so, his name is associated with the syndrome. Breaking down the name of this disorder, “acro” means “peak” in Greek and refers to the “peaked” hands of some people with this syndrome. Syndactyly refers to the webbing of fingers and toes. What occurs in embryology is that hands and feet are supposed to have some selective cells die (known as selective cell death or apoptosis to separate the fingers and toes. In the case of acrocephalosyndactyly, selective cell death does not occur, and fusion of skin, and sometimes bone, between the fingers and toes occur. As in crouzon syndrome, the bones of the skull are affected as well. Cranial synostosis results from the infant’s skull and facial bones fusing early while in development--- disabling the ability for normal bone growth. Fusion of different sutures lead to different patterns of growth of the skull. Examples include: trigonocephaly (fusion of the metopic suture), brachycephaly (fusion of the metopic suture), dolichocephaly (fusion of the sagittal suture), plagiocephaly (fusion of coronal and lambdoidal sutures), oxycephaly (fusion of most sutures).

Causes

There is some support that acrocephalosyndactyly occurs in an autosomal dominant mode, but the basic defect is still unknown. Evidence for this is ... [ Read More ]

External Resources

Florida - Space Coast Early Intervention Center - A nationally recognized not-for-profit pre-school and therapeutic center for families and children with Down syndrome, William's syndrome, Rett syndrome, Cerebral palsy, Autism, P-4 Deletion syndrome, PDD and Apert syndrome.

What is Apert Syndrome? - Medical information including definition, major and related features of the condition, genetics.

TJ's Journal - About Apert Syndrome and how it has affected the life of a baby boy named TJ and his family.

Swedish Apert Syndrome Information - General information about Apert syndrome with photographs of people with the condition. English version follows Swedish text.

Krista's Page - Written by her father, this contains biographical detail about living with Apert syndrome.

Apert Syndrome - Produced by Alliance of Genetic Support, this includes comprehensive information about the condition, an Apert listserve, newsgroup, links, webring and family homepages.

Apert Syndrome - Resource for contacts, chat rooms, pen pals and other relevant links.

Andrew's Journey with Apert's - Written by father of child with Apert syndrome. Contains biographical detail, and links to Apert syndrome stories and support sites.

Apert Syndrome - Frequently asked questions and answers on Apert syndrome.

Teeter's Page - A family support network for people affected by Apert syndrome and other craniofacial disorders.

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