Apert syndrome is a rare genetic disorder that affects the development of the skull, face, hands, and feet. It is caused by a mutation in a gene called FGFR2, which is involved in bone cell growth and differentiation. In most cases, Apert syndrome is not inherited, but occurs from a new mutation.
An individual with Aprent syndrome has a mutation in a gene called FGFR2, which stands for fibroblast growth factor receptor 2. This gene produces a protein that signals immature cells to become bone cells during embryonic development. When FGFR2 is mutated in a specific region, it alters the protein, causing prolonged signaling, which can lead to premature fusion of skull bones, hands, and feet.
In Apert syndrome, a single copy of the mutated gene causes the condition, which is called autosomal dominant. There is a risk of having a child with Apert syndrome of 1 in 65,000 to 88,000 births. However, most cases of Apert syndrome occur as a result of a new mutation in the affected person rather than inheritance from a parent.
Apert syndrome affects the shape and size of the head, face, hands, and feet. The most common features of Apert syndrome are:
A condition known as craniosynostosis occurs when the skull's joints (sutures) close too early, stopping it from growing normally. As a result, the head will be tall and pointed (acrocephaly), the forehead will be flat and broad, the face will be sunken, and the upper jaw will be small.
It is possible to have wide-spaced and bulging eyes (ocular proptosis), a beaked nose, a cleft palate (an opening in the roof of the mouth), crowded teeth, and other dental problems.
Some or all of the fingers and toes in syndactyly are fused together (webbed). The fusion may involve the skin, the bones, or both. The thumbs and big toes are usually wide and separate from the other digits. Polydactyly (excessive fingers and toes) may also occur in Apert syndrome patients.
Apert syndrome can also affect other organs and systems in the body, including the brain, the eyes, the ears, the heart, the lungs, the kidneys, the digestive tract, the spine, and the reproductive organs.
People with Apert syndrome may have learning difficulties, developmental delays, or intellectual disabilities, depending on the extent of the skull and brain abnormalities.
A person with an abnormally shaped and positioned eye can suffer from strabismus (crossed eyes), amblyopia (lazy eye), nystagmus (involuntary eye movements), glaucoma, and optic nerve damage. In some cases, corrective glasses, surgery, or other treatments may be required to correct these problems.
Some people with Apert syndrome may need hearing aids or cochlear implants to improve their hearing due to abnormal ear development.
Breathing difficulties can result from the narrow and small upper airway, especially during sleep. Obstructive sleep apnea is a condition in which breathing stops and starts repeatedly during sleep in people with Apert syndrome. During the day, this can cause sleepiness, irritability, and other health problems due to a decrease in oxygen levels in the blood.
People with Apert syndrome can develop congenital heart defects, such as holes in the walls of the heart (ventricular septal defects) or abnormal connections between blood vessels (patent ductus arteriosus). It may be necessary to perform surgery or take medication to correct these problems, as they can affect blood flow and oxygen delivery.
Eating difficulties, swallowing difficulties, reflux, and aspiration can result from abnormal development of the mouth, throat, and esophagus. The digestion and elimination of food and waste can be affected by blockages or malformations in the intestines, anus, or vagina in some people with Apert syndrome.
It is possible for people with Apert syndrome to develop kidney problems, including kidney stones, enlarged kidneys, or urinary tract infections. The undescended testes of some males with Apert syndrome can affect their fertility and increase the risk of testicular cancer in some cases. In some cases, females with Apert syndrome suffer from an imperforate hymen, which affects their menstrual cycle and reproductive health.
It is possible for the abnormal fusion of bones to affect the growth and development of the skeleton, especially the spine and the limbs. As a result of Apert syndrome, some people may have fused neck bones (cervical vertebrae), which can restrict their neck's flexibility and mobility. Additionally, people with Apert syndrome may have scoliosis, joint problems, or deformities of the limbs.
Apert syndrome can be diagnosed before or after birth, depending on the availability and accuracy of the diagnostic tests. Some of the methods used to diagnose Apert syndrome are:
Prenatal screening: This is a test that is done during pregnancy to check for certain genetic or chromosomal conditions in the fetus. Apert syndrome can be detected by blood tests, ultrasounds, or other techniques during prenatal screening. Prenatal screening, however, is not always accurate or available, so it may not be able to detect all cases.
Prenatal diagnosis: The test is conducted during pregnancy to determine whether the fetus has a genetic or chromosomal condition. The amniotic fluid or placenta can be sampled during prenatal diagnosis by invasive procedures, such as amniocentesis or chorionic villus sampling. Despite their potential to diagnose Apert syndrome definitively, these procedures also carry a small risk of infection or miscarriage.
Postnatal diagnosis: This is a test that is done after birth to confirm the presence of a genetic or chromosomal condition in the newborn. It can be performed by means of physical examination, imaging tests, or genetic tests. Apert syndrome can be identified by its characteristic features, such as abnormalities in the skull, face, and limbs. An X-ray, CT scan, or MRI scan can provide more information about bone structure and organ function. Genetic testing, such as blood tests or saliva tests, can detect the mutation in the FGFR2 gene that causes Apert syndrome.
There is a need for multidisciplinary care and management for Apert syndrome, which is a complex and lifelong condition. Depending on the severity and type of Apert syndrome symptoms and complications, treatment may involve surgery, medication, therapy, or other interventions. The main goals are:
Correct the skull and facial deformities and prevent or treat the brain and eye problems
Separate the fused fingers and toes and improve the function and appearance of the hands and feet
Treat the congenital heart defects and improve the blood circulation and oxygen delivery
Treat the respiratory problems and improve the breathing and sleep quality
Treat the gastrointestinal problems and improve the feeding and digestion
Treat the genitourinary problems and improve the urinary and reproductive health
Treat the skeletal problems and improve the posture and mobility
Support the cognitive and social development and enhance the learning and communication skills
Some of the treatments that may be used for Apert syndrome are:
In the case of Apert syndrome, surgery is usually used in stages, starting in infancy and continuing into adulthood. In addition to correcting skull and facial deformities, surgery can separate fused fingers and toes, repair cleft palates, correct heart defects, remove kidney stones, and correct spinal curvatures, among other things. There are some risks and complications associated with surgery for people with Apert syndrome, such as bleeding, infection, scarring, or nerve damage.
The symptoms and complications of Apert syndrome, such as pain, inflammation, infection, reflux, glaucoma, and seizures, can be treated with medication. People with Apert syndrome may also suffer from osteoporosis, acne, or depression, which can also be treated or prevented with medication. Patients with Apert syndrome may benefit from medication, but it may also have some side effects or interactions, such as nausea, drowsiness, or allergic reactions.
People with Apert syndrome can benefit from therapy to cope with the physical, mental, and emotional challenges associated with their condition. Therapy can include physical therapy, occupational therapy, speech therapy, behavioral therapy, or psychological therapy. Apert syndrome patients may benefit from therapy in terms of motor skills, sensory integration, language development, social skills, self-esteem, and emotional well-being, but it may also require time, effort, and commitment from their families.
Apert syndrome can also be treated with hearing aids, cochlear implants, glasses, braces, orthotics, and prosthetics, among other interventions. Apert syndrome patients can use these devices to improve their hearing, vision, dental health, alignment, or mobility, but they may also need to be maintained, adjusted, or replaced over time.
Apert syndrome is a rare and unpredictable condition that cannot be prevented in most cases. However, some measures that may help to reduce the risk or the impact of Apert syndrome are:
In genetic counseling, people who have or are at risk of having a genetic condition, such as Apert syndrome, receive information and guidance. In addition to providing information about the causes, inheritances, and implications of Apert syndrome, genetic counseling can help families make informed decisions regarding family planning, prenatal testing, and treatment options. Apert syndrome patients and their families can also receive emotional support and resources from genetic counseling.
Prenatal care: Pregnant women and their fetuses receive health care during pregnancy. Prenatal care can help to monitor the health and development of the fetus, as well as to detect and treat any problems that may arise, such as infections, anemia, or gestational diabetes. In the event of complications or special needs during delivery, prenatal care can also prepare for delivering the baby and caring for the newborn.
As soon as possible, services and support are provided to children with developmental delays and disabilities and their families as part of early intervention. Children with Apert syndrome can benefit from early intervention in order to identify and address their needs and strengths, and to improve their growth and development. Depending on the needs of each child and family, early intervention can include medical, educational, social, or therapeutic services.
As a result of a mutation in a gene called FGFR2, which is involved in bone cell growth and differentiation, Aprt syndrome affects the development of the skull, face, hands, and feet. Despite the physical, mental, and emotional challenges associated with Apert syndrome, it can be treated and managed with the help of a multidisciplinary team of specialists, supportive devices, and therapies. The right care and support can help people with Apert syndrome lead fulfilling and productive lives.
