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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 NamesAcrocephalosyndactyly
Causes, incidence, and risk factorsApert 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.
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.
People with Apert 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 that include craniosynostosis 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
- 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
A skull x-rayand 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.
TreatmentThe 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 GroupsChildren's Craniofacial Association -- www.ccakids.com
Expectations (prognosis)What to expect will vary from child to child.
ComplicationsOther birth defects may exist. Each child should be evaluated on an individual basis.
Calling your health care providerCall your health care provider if you have a family history of Apert syndrome or you notice your baby's skull is not developing normally.
PreventionGenetic counseling may be of value to prospective parents. Prenatal diagnosis is available.
ReferencesKinsman SL, Johnston MV. Congenital Anomalies of the Central Nervous System. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th Ed. Philadelphia, Pa: Saunders Elsevier; 2007: chap 592.
What else can I help you with?
Is apert syndrome autosomal or sexlinked?
Apert syndrome is a autosomal dominant genetic disorder, meaning that only one copy of the mutated gene from either parent is necessary to inherit the condition. It is not sex-linked.
What is syndactyly a symptom of?
Syndactyly is a characteristic of Apert syndrome, Poland syndrome, Jarcho-Levin syndrome, oral-facial-digital syndrome, Pfeiffer syndrome, and Edwards syndrome
How do you get Apert syndrome?
Apert syndrome is a genetic defect, so that means that the child will have it from conception (it's an autosomal dominant genetic defect, which means that only one parent needs to supply the defective gene in order for the child to be born with it.)
What other conditions could an infant with syndactyly have?
Syndactyly is a characteristic of Apert syndrome, Poland syndrome, Jarcho-Levin syndrome, oral-facial-digital syndrome, Pfeiffer syndrome, and Edwards syndrome.
When was Apert syndrome first discovered?
Apert Syndrome was first discovered by a French Physician named Eugene Apert in 1906 when he described nine different individuals with common characteristics and attributes.These patients were suffering from acrocephalosyndactyly, wherein the bone or skin between the toes and fingers fuses together because no selective cell death is taking place.
Is apert syndrome dominant or recessive?
Apert syndrome is typically caused by a sporadic mutation in the FGFR2 gene and is not inherited in a simple dominant or recessive manner. It is considered an autosomal dominant condition, with most cases arising from new mutations.
When did Eugène Apert die?
Eugène Apert died in 1940.
When was Eugène Apert born?
Eugène Apert was born in 1868.
What is apert syndrome?
Apert syndrome is a genetic disorder characterized by skull and limb abnormalities. It is caused by mutations in the FGFR2 gene and may result in fused bones in the skull, fingers, and toes, as well as other developmental issues. Treatment often involves surgery to address physical complications.
How is Apert syndrome diagnosed?
The characteristics of individuals with Aperts syndrome have the webbing of fingers and toes, or possibly, a cranial malformation, This webbing is caused by apoptosis, which is selective cell death, causing separation of the digits. With the head it is called cranialsynostosis. Some symptoms of cranialsynostosis is a high and prominent forehead with a flat posterior skull. Due to the premature closing of the coronal sutures, increased cranial pressure can develop as a result of deficient growth.They also have low set ears, shallow bony orbits and broadly spaced eyes.
What are the implications for apert syndrome?
Sporadic craniostenosis with oxycephaly and syndactyle sometimes polydactyle hands and feet often with blindness or visual impairment with proptosis and ophthalmoplegia..{taken from dictionary of medical eponyms} Alfieslittlegirl
What has the author Ernest I Fedun written?
Ernest I. Fedun is known for his work "The Bridge of Fire", a novel that explores themes of survival and resilience during the Second World War. He has also written various articles on historical events and conflict.
