Apert syndrome affects an estimated 1 in 65,000 to 88,000 newborns. Although parents of all ages can have a child with Apert syndrome, the risk is increased in older fathers.
What is the prognosis of Apert syndrome?
Life expectancy for an individual with Apert syndrome is normal; however, some of the health problems associated with the syndrome can lead to complicated disease and a premature death.
Does Apert syndrome affect intelligence?
Children with Apert syndrome can have various degrees of learning problems and developmental delays. About 70% have a reduced IQ but some have normal intelligence. Patients with Apert syndrome have varying degrees of webbed or fused fingers and toes (Syndactyly).
Can Apert syndrome be cured?
Apert syndrome has no known cure. Surgery to correct the abnormal connections between bones is the main treatment for Apert syndrome.
Is Apert syndrome a disability?
There is no disability listing for Apert syndrome among the Social Security Administration’s (SSA’s) impairment list. This does not however mean that the condition cannot medically qualify a child to receive benefits.
How do doctors diagnose Apert syndrome?
Apert syndrome is usually diagnosed at birth by the physical signs, such as a tall skull and high, prominent forehead, underdeveloped upper jaw, prominent eyes, and fused fingers and/or toes. The fusion of the fingers and toes distinguishes Apert syndrome from other craniofacial disorders.
What are the signs and symptoms of Apert syndrome?
Symptoms of Apert syndrome
- tall skull and high prominent forehead.
- underdeveloped upper jaw.
- prominent eyes that appear to be bulging out and may be spaced widely apart.
- small nose.
- fused fingers.
- fused toes.
- slower mental development due to the abnormal growth of the skull.
- cleft palate.
What is Carpenter’s syndrome?
Carpenter syndrome is a condition characterized by the premature fusion of certain skull bones (craniosynostosis), abnormalities of the fingers and toes, and other developmental problems. Craniosynostosis prevents the skull from growing normally, frequently giving the head a pointed appearance (acrocephaly).
What is the difference between Apert and Crouzon syndrome?
In conclusion, Apert syndrome is more asymmetric in nature and a more severe clinical entity than Crouzon syndrome.
Is syndactyly genetic?
Syndactyly often runs in families. About 10 to 40 percent of children with syndactyly inherit the condition from a parent. In some cases, the condition is part of genetic syndrome, such as Poland syndrome or Apert syndrome.
What causes babies to be born with webbed toes?
What Causes Webbed Toes? Syndactyly occurs when toes fail to divide and separate properly during the baby’s development in the womb. They might not become independent digits due to a genetic condition (for example, webbed toes can be associated with Down syndrome), but this is rare.
What chromosome is Apert syndrome on?
Apert Syndrome is the result of a genetic change (mutation) in a gene called FGFR2 – “fibroblast growth factor receptor 2” – on chromosome 10. A child only needs to receive the mutated gene from one parent to be affected by the disorder.
Can your toes fuse together?
Syndactyly is the presence of webbed fingers or toes. It’s a condition that occurs when the skin of two or more fingers or toes is fused together. In rare cases, your child’s fingers or toes could be joined together by one or more of the following: bone.
What kind of mutation is Apert syndrome?
Apert syndrome is caused by a change ( mutation ) in the FGFR2 gene . It is inherited in an autosomal dominant manner, but many cases result from a new mutation in a person with no family history of the disorder (a de novo mutation).
What happens to the body when you have Apert syndrome?
Apert syndrome is a rare genetic disorder that causes a fetus’ facial and skull bones to fuse together too early in its development. Apert syndrome causes facial and skull abnormalities, which can lead to visual impairments and dental problems. Apert syndrome can also cause abnormalities in the fingers and toes.
What does Apert mean?
1 archaic : open, manifest, evident. 2 obsolete : bold, straightforward, outspoken.
What is Noonan syndrome?
Noonan syndrome is a genetic disorder that prevents normal development in various parts of the body. A person can be affected by Noonan syndrome in a wide variety of ways. These include unusual facial characteristics, short stature, heart defects, other physical problems and possible developmental delays.
Why does Apert syndrome happen?
Apert syndrome is caused by a change (mutation) in a gene that affects how bones form. The gene is called FGFR2 (fibroblast growth factor receptor 2). Most often the condition is caused by a new genetic change. (This means it was not inherited from the mother or father.)
Are there prenatal tests for Apert syndrome?
Prenatal diagnosis of Apert syndrome is easily confirmed by 2D ultrasound by means abnormal skull shape, facial abnormalities, and syndactyly. In few cases, the characteristic fetal anomalies of this syndrome are not present and the genetic diagnosis by amniocenteses is necessary.
Is Apert syndrome more common in a certain race?
Asians had the highest prevalence (22.3 per million live births; CI 7.1,61.3) and Hispanics the lowest (7.6 per million, CI 3.3-16.4).
How common are webbed toes in babies?
Webbed fingers or toes: Are fairly common and often run in families. Occur in about one out of every 2,500-3,000 newborns.
Are webbed toes a birth defect?
Syndactyly is one of the most common birth abnormalities, affecting an estimated 1 in every 2,000–3,000 children born each year. It occurs when the toes or fingers do not separate correctly during fetal development.
What bones are affected by Cleidocranial dysplasia?
Cleidocranial dysplasia is a rare genetic condition that affects teeth and bones, such as the skull, face, spine, collarbones and legs. The bones in people with CCD might be formed differently or might be more fragile than normal, and certain bones such as collarbones may be absent.