Does Apert syndrome have a cure?
Babies with Apert syndrome are born with a distorted shape of the head and face. Many children with Apert syndrome also have other birth defects. Apert syndrome has no cure, but surgery can help correct some of the problems that result. Apert syndrome is caused by a rare mutation on a single gene.
How do you get Apert syndrome?
- Decrease in the rate of growth leading to short stature, despite normal birth weight and birth length
- Fusion of vertebrae of neck
- Fusion of the two arm bones
- Fusion of the wrist bones
What do you need to know about Apert syndrome?
People with Apert syndrome typically have:
- a distinctive pointed head and high, broad forehead
- a sunken face with wide-set and bulging eyes
- fused (or webbed) fingers and toes, often with a single wide nail
How do you test for Apert syndrome?
- Individuals who have Apert syndrome may meet with genetic counselors to learn about the risk of having children with the disorder.
- If one parent has Apert syndrome, there is a 50% chance of passing it on to their child.
- Prenatal screening and diagnosis may be done to determine if a mother’s fetus has the Apert syndrome.
What happens to the body with 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.
Is there gene therapy for Apert syndrome?
According to the findings of included studies, we conclude that the gene therapy using FGF in Apert syndrome was critical in the regulation of suture fusion and patency, occurred via alterations in cellular proliferation. The superior outcome could be brought by biological therapies targeting the FGF/FGFR signalling.
Can people with Apert syndrome have kids?
Our genetic counselors also advise people with Apert syndrome about their chance of having a child with the condition. A person with Apert syndrome has a 50% chance in each pregnancy of passing down the gene that causes the condition.
How does a person get Apert syndrome?
Apert syndrome almost always results from new genetic changes (mutations) that occur randomly. Rarely, it is inherited in an autosomal dominant pattern. People with Apert syndrome can undergo therapies that address specific symptoms. This could include reconstructive skull, facial, hand, and foot surgeries.
Who is most likely to get Apert?
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.
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 long can someone live with Apert syndrome?
Life expectancy also varies between children with Apert syndrome. Those with Apert syndrome who survive past childhood and don't have heart problems likely have a normal or near-normal life expectancy. Life expectancy is likely improving because of advances in surgical techniques and follow-up care.
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 people with Apert syndrome talk?
Conclusion: Children with Apert syndrome are at a higher risk of speech and language difficulties than the typical population. Speech and Language Therapists play an integral role in the management of school aged children with Apert Syndrome.
Can Apert syndrome be detected before birth?
Parents were counseled by craniofacial surgeons and geneticists. Conclusion: Apert syndrome can be accurately suspected in the second-trimester by careful ultrasound examination of the fetus including the extremities and skull shape.
What is another name for Apert syndrome?
Apert syndrome, also called acrocephalosyndactyly, is a genetic syndrome characterized by anomalies of the skull, face and limbs.
What does Apert mean?
Definition of apert 1 archaic : open, manifest, evident. 2 obsolete : bold, straightforward, outspoken.
Why do children with Apert syndrome need surgery?
Children with Apert syndrome usually require surgery for release of the skull bones to allow a chance for the brain to develop normally. The older a child is before this surgery is performed, the lower the chance for reaching normal intellectual ability.
Why do doctors suspect Apert syndrome?
Doctors often suspect Apert syndrome or another craniosynostosis syndrome at birth because of a newborn's appearance. Genetic testing can usually identify Apert syndrome or another cause of abnormal skull formation.
How many children with Apert syndrome have normal intelligence?
In general, children who are raised by their parents have a better chance of achieving normal intellectual ability. About four in 10 children with Apert syndrome who are raised in a healthy family environment reach a normal intelligence quotient (IQ).
How many steps does Apert syndrome surgery take?
In general, surgery for Apert syndrome takes place in three steps:
What is the cause of Apert syndrome?
Causes of Apert Syndrome. Apert syndrome is caused by a rare mutation on a single gene. This mutated gene is normally responsible for guiding bones to join together at the right time during development. In almost all cases, the Apert syndrome gene mutation seems to be random.
When to get midface surgery?
As the child with Apert syndrome grows, the facial bones again become misaligned. A surgeon cuts the bones in the jaw and cheeks and brings them forward into a more normal position. This surgery may be done at any time between ages 4 and 12. Additional corrective surgery may be needed, especially when midface advancement is done at a young age.
Does Apert syndrome cause emotional problems?
Children with Apert syndrome and other similar conditions who have normal IQs do not seem to have an increased risk of behavioral or emotional problems. However, they may require additional social and emotional support to help cope with their condition. Children with Apert syndrome with lower IQs often do have behavioral and emotional problems.
What is the best way to diagnose Apert syndrome?
To formally diagnose a person with Apert syndrome, a doctor will look for the characteristic bone abnormalities affecting the head, face, hands, and feet.
What is the mutation of Apert syndrome?
Apert syndrome is a birth abnormality caused by a mutation of the FGFR2 gene. This can occur in babies with no family history of the disorder, or they can inherit it from a parent. The FGFR2 gene produces a protein called fibroblast growth factor receptor 2.
How many babies are affected by Apert syndrome?
The U.S. National Library of Medicine estimate that it affects 1 in 65,000 to 88,000 newborns, and the National Organization for Rare Disorders (NORD) estimate that the figure is closer to 1 in 165,000 to 200,000 births. Most cases of Apert syndrome appear with no previous family history of the disorder.
What is the cause of syndactyly?
Apert syndrome may cause syndactyly, or fusing of the fingers or toes. Image credit: Gzzz, (2016, January 14.) Apert syndrome is a condition where the bones of the skull fuse together too early, which affects the shape of the head and face. People born with Apert syndrome may experience problems with their vision and teeth because ...
How do you know if you have Apert syndrome?
Most often, three fingers or toes are fused together, but sometimes a whole set of fingers or toes may be webbed. Less commonly, a child may have additional fingers or toes. Additional signs and symptoms of Apert syndrome include: hearing loss. severe acne. heavy sweating. fusion of spinal bones in the neck. oily skin.
Why do people with Apert syndrome have problems with their teeth?
People born with Apert syndrome may experience problems with their vision and teeth because of the abnormal shape of the facial and skull bones. In many cases, three or more fingers or toes also fuse together, which is called syndactyly. Apert syndrome is a genetic disorder. It usually appears with no family history of the syndrome, ...
Does Apert syndrome affect males?
Most cases of Apert syndrome appear with no previous family history of the disorder. However, the NORD also report that when one parent has the disorder, the child will have a 50 percent chance of developing it. This statistic applies to each pregnancy. This syndrome appears to affect males and females equally.
What is Apert Syndrome?
Apert syndrome, also called acrocephalosyndactyly, is a genetic syndrome characterized by anomalies of the skull, face and limbs. Gene mutations are responsible for causing the early fusion of the skull, hand and feet bones.
What are the characteristics of Apert syndrome?
Other common characteristics include large elongated forehead, shallow eye sockets causing prominent eyes, narrow palate with or without a cleft, fused bones in the arms, elbows and hips, and hearing loss. The characteristic feature that distinguishes Apert syndrome from other types of syndromic craniosynostosis is the presence of hand anomalies, most commonly fused or webbed fingers (syndactyly).
What is the name of the syndrome in a 6-month-old male?
6-month-old male with Apert syndrome. Note tall shape and characteristic flatness of the back of the head. Eyes that appear wide set and have a bulging appearance are also a characteristic of this syndrome.
How to diagnose Apert syndrome?
An individual is diagnosed through clinical evaluation and a variety of specialized tests. Physical features like facial anomalies or syndactyly would be identified. Skeletal abnormalities and congenital heart defects may be detected using imaging, like a computed tomography (CT) scan or an MRI. Hearing impairment may be detected during a newborn screening hearing test. Individuals may also have testing for mutations in the FGFR2 gene, which can provide a genetic diagnosis of Apert syndrome.
How many births are there in Apert syndrome?
Apert syndrome is estimated to occur in about one in 65,000 births. Males and females seem to have Apert syndrome in relatively equal numbers. Over 300 cases have been reported since the disorder was originally described in 1894 and 1906. Asian individuals have been reported to have the highest incidence of Apert syndrome.
Which organ system is most affected by Apert syndrome?
Generally, upper limbs are more severely affected by Apert syndrome than the lower limbs. Apert syndrome can affect other organ systems as well: Skeletal. Decrease in the rate of growth leading to short stature, despite normal birth weight and birth length. Fusion of vertebrae of neck.
Can Apert syndrome cause facial abnormalities?
This can cause pressure on the brain. The facial bones can be affected by craniosynostosis. This can lead to characteristic facial abnormalities. People with Apert syndrome may have widely spaced eyes (hypertelorism), bulging eyes, or down-slanting palpebral fissures.
Is Apert syndrome inherited?
Apert syndrome almost always results from new genetic changes (mutations) that occur randomly. Rarely, it is inherited in an autosomal dominant pattern. People with Apert syndrome can undergo therapies that address specific symptoms. This could include reconstructive skull, facial, hand, and foot surgeries.
Is Apert syndrome autosomal dominant?
Rarely, Apert syndrome is inherited in an autosomal dominant fashion. Dominant genetic disorders occur when only a single copy of a mutation is necessary to cause a particular disease. The risk of passing the mutation from an affected parent to an offspring is 50% for each pregnancy.
How to treat Apert syndrome?
Treatment for Apert syndrome may vary depending on the specific symptoms and severity in each person, but surgery is required to prevent complete fusion of skull bones and protect brain development. [7] Surgeries to correct symptoms affecting the brain, skull and face typically are done in stages, but the timing of surgeries as well as techniques used depend upon each child's symptoms, growth, and psychosocial development. Surgeries may be needed for the following: [7] [8] [9]
What are the symptoms of Apert syndrome?
Additional signs and symptoms of Apert syndrome may include hearing loss, extra fingers or toes ( polydactyly ), heavy sweating ( hyperhidrosis ), oily skin with severe acne, patches of missing hair in the eyebrows, and spinal bones in the neck (cervical vertebrae) that are fused. Recurrent ear infections may be associated with an opening in ...
What is Project OrphanAnesthesia?
Project OrphanAnesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them. The project is a collaborative effort of the German Society of Anesthesiology and Intensive Care, Orphanet, the European Society of Pediatric Anesthesia, anesthetists and rare disease experts with the aim to contribute to patient safety.
How to correct hypertelorism?
This may be done by removing part of the bone between the eyes (interorbital bone), and repositioning the eye sockets (orbits) closer together for improved appearance.
Can Apert syndrome cause vision problems?
An underdeveloped upper jaw and shallow eye sockets can cause dental and vision problems. Craniosynostosis can also affect the development of the brain, disrupting intellectual development. Cognitive abilities in people with Apert syndrome range from normal to mild or moderate intellectual disability. [2] [4] [5]
What is the surgical management of Apert syndrome?
Surgical management of Apert syndrome includes the following: Protection of the cornea: Lateral or medial tarsorrhaphy is performed in severe cases to narrow the palpebral fissure cosmetically and to protect the corneas and the vision.
What is the best treatment for a bilateral conductive hearing deficit?
Chronic middle ear effusion associated with bilateral conductive hearing deficit: Bilateral myringotomy and placement of ventilation tubes are the most effective treatment.
What is the most reliable method for determining the presence of sleep apnea?
Judicious use of topic nasal decongestants. Sleep apnea. Polysomography (a sleep recording of multiple physiologic variables), currently the most reliable method for determining the presence of sleep apnea. Continuous positive pressure.
What is the procedure for a 2 jaw split?
For orthodontic treatment, most patients require 2-jaw surgery (bilateral sagittal split osteotomy with mandibular setback and distraction in the maxilla). During the period of distraction, the orthodontist guides the maxilla into final position using bite planes and intermaxillary elastics.
What is Apert Syndrome?
Apert Syndrome is a rather rare autosomal dominant disorder described by the French physician named Eugene Apert in 1906. This syndrome is otherwise known as acrocephalosyndactylia.
Can Apert syndrome be passed down?
The fact about Apert syndrome is that it is a result of a genetic mutation; therefore it can be passed down from one generation to another. If your family has a history of this disorder and you are planning to get pregnant, it is recommended to seek genetic counseling to take preventive measures and preparations.
