About apert syndrome

What is apert syndrome?

Apert syndrome, also known as acrocephalosyndactyly type I (ACS1), is a rare genetic disorder that is apparent at birth (congenital). The disorder is character-ized by distinctive malformations of the head that lead to distinctive facial features. In addition, the hands and/or feet may be webbed (syndactyly) and in some cases, mental retardation may also be present.

Among babies born with Apert syndrome, the fibrous joints between bones of the skull (sutures) close prematurely (craniosynostosis). The pressure of continued brain growth distorts various bones of the skull and the face. The skull is forced into one of several characteristic shapes. Often the head appears abnormally pointed at the top (acrocephaly). The distortion of the skull plates create changes in the facial bones leading to characteristic facial abnormalities, such as widely spaced eyes (ocular hypertelorism), abnormal protrusion of the eyes (exophthalmos), underdevelopment of midfacial regions (midface hypoplasia), and/or a narrow roof of the mouth (palate).

Malformations of the hands and feet may include unusually broad thumbs and great toes, short fingers, and/or partial to complete fusion (syndactyly) of certain fingers and toes (digits). Most commonly, there is complete fusion of bones within the second to the fourth fingers and the presence of a single common nail ("mitten-like" syndactyly).

In almost all instances, Apert syndrome results from new genetic changes (mutations) that appear to occur randomly for unknown reasons (sporadically). In rare cases, the disorder may be inherited as an autosomal dominant trait.



What are the symptoms for apert syndrome?

Fused fingers and toes (syndactyly) symptom was found in the apert syndrome condition

The defective gene in babies with Apert syndrome allows the skull bones to fuse together prematurely, a process called craniosynostosis. The brain continues to grow inside the abnormal skull, putting pressure on the bones in the skull and face.

The abnormal skull and facial growth in Apert syndrome produce its main signs and symptoms:

  • A head that is long, with a high forehead
  • Wide-set, bulging eyes, often with poorly-closing eyelids
  • A sunken middle face



What are the causes for apert syndrome?

Apert syndrome is caused by a change (mutation) in the fibroblast growth factor receptor-2 (FGFR2) gene. This gene plays a critical role in skeletal development. Genes provide instructions for creating proteins that play distinct roles in our body. When a mutation of a gene occurs, the protein product may not work as it should. In Apert syndrome, mutations in FGFR2 result in these receptors not properly communicating with fibroblast growth factors. This affects the formation of normal sutures in the brain and can obstruct the development of many other structures in the body. This improper formation is what causes the malformations seen in Apert syndrome.

In almost all reported patients, the disorder has been caused by one of two specific mutations of the FGFR2 gene. (These mutations are designated “Ser252Trp” and “Pro253Arg.”) These mutations may cause slightly different presentations, including the severity of syndactyly. Different mutations in the FGFR2 gene may cause several other related disorders, including Pfeiffer syndrome, Crouzon syndrome, and Jackson-Weiss syndrome. (For further information on these disorders, please see the “Related Disorders” section of this report below.)

In up to 95% of patients, Apert syndrome results from a new mutation in the FGFR2 gene. These new mutations appear to occur randomly for unknown reasons (sporadically). It has been reported that sporadic cases may be associated with increased age of the father.

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. The risk is the same for males and females.



What are the treatments for apert syndrome?

The treatment of Apert syndrome varies based on which symptoms are seen in the individual. Such treatment may require care by a team of healthcare providers including pediatricians and surgeons. Specialists may include hearing specialists, neurosurgeons, physicians who specialize in disorders of the skeleton, joints, and muscles (orthopedists), physicians who specialize in disorders of the ears, nose, and throat (otolaryngologists), and physicians who specialize in heart abnormalities (cardiologists).

Specific therapies for Apert syndrome are symptomatic and supportive. Craniosynostosis and hydrocephalus may result in abnormally increased pressure within the skull and on the brain. In such cases, early surgery (within 2 to 4 months after birth) may be advised to correct craniosynostosis. For those with hydrocephalus, surgery may also involve inserting a tube (shunt) to drain excess cerebrospinal fluid (CSF) away from the brain. The CSF would be drained into another part of the body where it can be absorbed.

Corrective and reconstructive surgery may be recommended to help correct craniofacial malformations. Surgery may also be able to help correct polydactyly and syndactyly, and other skeletal defects or physical abnormalities. For those with congenital heart defects, treatment with certain medications, surgical intervention, and/or other measures may be necessary. For some individuals with hearing impairment, hearing aids may be beneficial.

Early intervention may be important to ensure that children with Apert syndrome reach their full potential. Special services like physical therapy, occupational therapy, and special education may be beneficial.

Genetic counseling is recommended for affected individuals and their families. A genetic counselor can explain the causes of Apert syndrome. They can also discuss the chances of having additional children with Apert syndrome. Psychosocial support for the entire family is essential as well.



Is there a cure/medications for apert syndrome?

Apert syndrome is a genetic condition that is present from birth. It involves the fusion of certain bones in the skull, which can cause problems with brain development and health.

1. There is no established or proven cure for Apert syndrome; however, there are treatments available to manage the symptoms.
2. In some cases, surgery can be used to correct the bones and facial deformities associated with the condition.
3. The surgery would involve reconstructing the bones in the skull, face, and hands. In addition, there are medications available to help with the symptoms of Apert syndrome. These include pain relievers, anticonvulsants, and sedatives. Physical therapy or speech therapy may also be recommended to help with the developmental delays associated with Apert syndrome.
4. Complications from the condition can occur, but they are typically manageable. With appropriate medical care and support, people with Apert syndrome can lead happy and healthy lives.
5. There is no one-size-fits-all approach to managing Apert syndrome, so it is important to work with a healthcare team that is familiar with the condition.

Symptoms
Abnormally shaped head and face,Widely spaced eyes (ocular hypertelorism),A beak-like nose,Underdeveloped or absent cheekbones (maxillary hypoplasia),Cleft palate,Fused fingers and toes (syndactyly),Skeletal abnormalities such as premature fusion of certain bones in the skull (craniosynostosis)
Conditions
Craniosynostosis,Ocular hypertelorism,Maxillary hypoplasia,Syndactyly
Drugs
None available or required



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