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:
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.
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.
SymptomsSeveral 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:
The doctor will perform a physical exam. Hand, foot, and skull x-rays will be done. Hearing tests should always be performed.
Genetic testing can confirm the diagnosis of Apert syndrome.
TreatmentTreatment 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.
Support GroupsChildren's Craniofacial Association -- www.ccakids.com
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 helpful if you have a family history of this disorder and are planning to become pregnant. Your doctor can test your baby for this disease during pregnancy.
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.
Reviewed ByReview Date: 08/04/2011
Chad Haldeman-Englert, MD, Wake Forest University School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
Syndactyly is a characteristic of Apert syndrome, Poland syndrome, Jarcho-Levin syndrome, oral-facial-digital syndrome, Pfeiffer syndrome, and Edwards 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.)
Syndactyly is a characteristic of Apert syndrome, Poland syndrome, Jarcho-Levin syndrome, oral-facial-digital syndrome, Pfeiffer syndrome, and Edwards syndrome.
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.
Recessive, but dominant in some rare cases.
Eugène Apert died in 1940.
Eugène Apert was born in 1868.
a genetic disease in which the seams between the skull bones, feet, and hands close earlier than normal. this affects the shape of the head, feet, and hands.
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
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.
Yes, there are about 300 more languages
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