Apert Syndrome is a genetic disorder that leads to abnormal skull development. Babies with this kind of syndrome are born with distorted shape of the head and face because of the early fusion that prevents the normal growth of skull. Also, the fingers and toes get combined together as a result of abnormal feet and hands.
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For more information: (links to the section below)
- About Apert Syndrome
- Causes of Apert Syndrome
- Where to go for Apert Syndrome?
- Apert Syndrome Symptoms
- What are the treatments for Apert Syndrome
- Risks associated with Apert Syndrome
- Who can go for the treatment?
About Apert Syndrome
Apert Syndrome is caused by the rare mutation of a single gene. This gene causes the bones to join together at the right time. Many of the facial features of a child suffering from this mutation are a result of the premature fusion of skull bones. The head is not able to grow normally that leads to a sunken face structure, bulging and wide-set eyes along with an underdeveloped upper jaw. This results in crowded teeth and many other oral problems. Apert syndrome is an atypical autosomal dominant disorder distinguished by craniosynostosis, craniofacial anomalies, and severe symmetrical syndactyly (cutaneous and bony fusion) of the hands and feet.
In this ailment, reproductive fitness is low and more than 98% cases arise because of the new mutation. Apert Syndrome has no cure found till now; however, the problems that arise as a result of this syndrome can be cured to some extent. Apert Syndrome is a rare mutation where a child has delayed development, though, that depends on every individual. Early fusion of the brain skull can also lead to delay in intellectual ability. Children with Apert Syndrome have webbed feet and hands that disrupt their hand and feet movement.
The severe form of fused feet and hands have minimum of three fingers or toes fused. If all of the fingers and toes are conjoined then that is the most ruthless form of Apert Syndrome. In a few of the cases, children with Apert Syndromecan have an extra finger or toe. Moreover, Apert Syndrome can result in hearing loss, unusually heavy sweating, fusion of spinal bones in the neck and recurrent ear infections.
Causes of Apert Syndrome
Apert Syndrome is majorly caused by a change or the deformation of a gene called fibroblast growth factor receptor 2 (FGFR 2) that is influential in the bone formation. The most common occurrence of Apert Syndrome is caused by the new gene formation which means that it is not inherited from parents. In very rare cases, a parent passes the gene to the offspring.
The mutated gene is the reason behind joining of the bones together. This gene endows with the instructions to create a protein that signals bone cells to form while the baby is still inside the womb. In about 95% cases, the mutation is a random process. The babies born with Apert Syndrome may don’t’ have any recorded family history of this syndrome.
Where to go for Apert Syndrome?
In USA there are various facilities that can offer treatment for Apert Syndrome, if you have already determined your child’s symptoms from early stages. As there are more precautions and management rather than the treatment, quite many hospitals cater to the treatment of Apert Syndrome. You might or might not have to travel within the States for the treatment sometime, so you carefully need to plan out the best health care for your child.
The following health care facilities would help you largely deal with the diagnosis and treatment of the syndrome:
- Coming Soon
Quite a lot of families never even hear about Apert Syndrome before their child is born with it. Each year several hospitals across USA care for quite a few children with Apert Syndrome. Most of the hospitals pay attention to the newly diagnosed children. There are a few hospitals in USA that alsocare for the childrenwho have received initial treatment in some other hospital.
As far as diagnosis is concerned, in some circumstances, the diagnosis of Apert Syndrome can be identified even before birth with specialized techniques such as fetoscopy or ultrasound. In the process of fetoscopy, a flexible viewing instrument that is, endoscope is inserted into the uterus through abdominal wall to directly monitor the fetus and sometimes to obtain blood or tissue samples for DNA analysis. Fetal ultrasonography is a noninvasive diagnostic course of action during which reflected sound waves create an image of the developing fetus that helps to understand if the baby has any mutation.
Mostly, the diagnosis is made available at the birth or during initial infancy stage on the basis of systematic clinical evaluation, classification of distinctive physical findings, and a diversity of specialized tests. To detect the abnormalities associated with Apert Syndrome, advanced imaging techniques such as CT scan or MRI are also used.
Apert Syndrome Symptoms
One can notice the symptoms of the baby for Apert Syndrome since birth. The syndrome lets the skull bones to fuse together prematurely. On the other hand, the brain keeps on growing in its normal size inside the skull, putting pressure on bones that gives an irregular shape to the face and head of the baby that is visible in an infant.
- Bulging, wide set eyes
- Beaked nose
- Sunken face
- Small upper jaw
- Crowded, uneven teeth
- Webbed or merged feet and fingers
- Extra fingers on hands and feet
- Stiff joints in the fingers
- Heavy sweating
- Severe acne
- Missing hair patches in the eyebrow
- Noisy breathing
What are the treatments for Apert Syndrome
The treatment process is directed towards the specific symptoms that every individual is dealing with. Treatment for Apert Syndrome asks for in line attempts of a whole professional team of medical expertiseif required, that may include:
- Pediatricians; surgeons and physicians who diagnose and care for the disorders of skeleton, joints, and muscles related tissues (orthopedists)
- Specializedphysicians of nose, ear and throat disorders (otolaryngologists)
- Physicians who diagnose and treat heart abnormalities (cardiologists)
- Hearing specialists
- Other health care certified professionals
Nevertheless, there is no solitary care plan for Apert Syndrome. The treatments that are provided depend upon how a child responds to certain therapies. Some of the therapies of treating Apert Syndrome are symptomatic and sympathetic. In case of craniosynostosis that is a result of Apert Syndrome, early surgery (within 2 to 4 months after birth) to correct the ailment can be done. Individuals with hydrocephalus (also a result of Apert Syndrome) get a surgery done where a tube shunts away from the brain to drain excess cerebrospinal fluid (CSF) to another part of the body where CSF can be absorbed. Craniofacial abnormalities that happen in infants suffering from Apert Syndrome can be treated through corrective and reconstructive surgeries in their early years.
Nowadays, genetic counseling is also proving benefits for the affected individuals and their families. The main treatment considered for Apert Syndrome is the surgery to correct the abnormal connections between bones. There is also a surgical treatment available for the conjoined hands and feet of the individuals suffering from this syndrome that works on a comprehensive approach and minimum operations. No scar contractures or functional limitations are reported in this kind of treatment.
Risks associated with Apert Syndrome
In most of the cases, Apert Syndrome is a result of spontaneous mutation, which means that the parents are unaffected but the child gets the syndrome. The risk of spreading the disorder from affected parent to the offspring is 50 percent for every pregnancy in spite of the sex of the resulting child. The risk factor is similar for each pregnancy. Research concludes that increased parental age is also a risk factor for Apert Syndrome. There is no gender bias in this mutation; both males and females are affected in the same ratio.
Who can go for the treatment?
Apert Syndrome is a rare condition that can happen one of 45,000 to 1,60,000 live births. Males and females are equally affected by this syndrome. Since, the mention of Apert Syndrome in medical literature that was in 1894, only 300 cases have been reported till now.
As there is not much awareness about Apert Syndrome and the cases are also not very frequent, not all the health care facilities provide the diagnosis and treatment of the syndrome. And the ones that have the facility to treat Apert Syndrome might be far off from your State and you might have to travel down to the place for the well-being of your child.