Apert Syndrome: Symptoms, Causes, Treatment

What are the symptoms of Apert syndrome?

Apert syndrome is a rare genetic disorder characterized by abnormal growth of the skull and face. The symptoms of Apert syndrome can vary widely but often include:

Craniosynostosis: Premature fusion of the skull bones, which can lead to an abnormally shaped head, a high forehead, and bulging eyes.
Midface hypoplasia: Underdevelopment of the midface, leading to a flat or sunken appearance of the middle part of the face.
Syndactyly: Fusion of fingers or toes, which can give the hands and feet a webbed appearance.
Symmetrical syndactyly of the hands and feet: Fingers and toes are fused together, typically the second, third, and fourth digits.
Other skeletal abnormalities: These may include abnormalities of the spine, ribs, and limbs.
Dental abnormalities: Crowded or misaligned teeth, as well as other dental issues, are common.
Hearing loss: Conductive hearing loss is common due to abnormalities of the middle ear.
Vision problems: Strabismus (crossed eyes) and other eye abnormalities can occur.
Intellectual disability: Some individuals with Apert syndrome may have intellectual disability, although intelligence can vary widely.
Breathing problems: Narrowing of the airways due to facial abnormalities can lead to breathing difficulties, especially during infancy.
Gastrointestinal abnormalities: These can include malrotation of the intestines or other structural issues.

The severity of symptoms can vary widely among individuals with Apert syndrome. Early intervention and management by a multidisciplinary team of specialists, including craniofacial surgeons, orthodontists, ophthalmologists, and others, can help improve outcomes and quality of life for individuals with this condition.

What are the causes of Apert syndrome?

Apert syndrome is caused by mutations in the FGFR2 gene, which is responsible for providing instructions for making a protein involved in the development and maintenance of tissues, including bone and brain tissue.

The mutations in the FGFR2 gene associated with Apert syndrome result in the protein being constantly active, leading to abnormal growth and development of the skull, face, hands, and feet. These mutations are typically not inherited from a person’s parents but occur spontaneously during the formation of reproductive cells or early in fetal development.

The exact reason why these mutations occur is not fully understood, but they are believed to be random and not related to any specific environmental or lifestyle factors. The risk of having a child with Apert syndrome is very low, even for parents who have a child with the condition, as the mutations are usually not inherited.

Genetic counseling is recommended for individuals with Apert syndrome or a family history of the condition to understand the risks and available options for future pregnancies.

What is the treatment for Apert syndrome?

The treatment for Apert syndrome is typically aimed at managing the symptoms and complications associated with the condition. The specific treatment plan will depend on the individual’s symptoms and needs, and may involve a multidisciplinary team of healthcare providers. Some common treatments and interventions for Apert syndrome include:

Surgery: Surgery is often needed to correct the craniosynostosis (premature fusion of the skull bones) and to reshape the skull to allow for normal brain growth. Additional surgeries may be needed to correct other facial and skeletal abnormalities, such as syndactyly (fusion of fingers or toes) and midface hypoplasia (underdevelopment of the midface).
Orthodontic treatment: Orthodontic treatment may be necessary to correct dental issues, such as crowded or misaligned teeth, that are common in individuals with Apert syndrome.
Speech and language therapy: Some individuals with Apert syndrome may benefit from speech and language therapy to improve communication skills, especially if there are issues related to the structure of the mouth or palate.
Hearing aids: Conductive hearing loss is common in individuals with Apert syndrome due to abnormalities of the middle ear. Hearing aids may be recommended to improve hearing.
Vision correction: Vision problems, such as strabismus (crossed eyes) and other eye abnormalities, may require corrective lenses or surgery.
Physical and occupational therapy: These therapies may help improve motor skills, coordination, and independence in activities of daily living.
Psychological support: Individuals with Apert syndrome and their families may benefit from psychological support to cope with the emotional and social challenges associated with the condition.
Regular monitoring: Regular monitoring by a multidisciplinary team of healthcare providers is important to monitor growth and development, manage symptoms, and address any new or emerging issues.

The goal of treatment for Apert syndrome is to improve quality of life and functional outcomes for individuals affected by the condition. Early intervention and a coordinated approach to care can help achieve these goals and optimize long-term outcomes.

Is Apert syndrome hereditary?

Apert syndrome is typically not inherited in a traditional sense, as it is usually caused by a new mutation in the FGFR2 gene that occurs spontaneously during the formation of reproductive cells or early in fetal development.

However, individuals with Apert syndrome who have children have a very low risk of passing the condition on to their offspring. This is because the mutations in the FGFR2 gene that cause Apert syndrome are usually not present in the reproductive cells of affected individuals.

In rare cases, Apert syndrome can be inherited in an autosomal dominant pattern, which means that a child only needs to inherit one copy of the mutated gene from either parent to develop the condition. However, this is rare, and most cases of Apert syndrome occur sporadically due to new mutations.

Genetic counseling is recommended for individuals with Apert syndrome or a family history of the condition to understand the risks and available options for future pregnancies.

Is Apert syndrome a disability?

Yes, Apert syndrome is considered a disability. It is a rare genetic disorder that can affect various aspects of a person’s health and development, including physical, cognitive, and social functioning.

Individuals with Apert syndrome may experience a range of challenges, such as craniofacial abnormalities, skeletal abnormalities, developmental delays, and intellectual disability. These challenges can impact daily living activities, social interactions, and overall quality of life.

However, it’s important to note that the severity of symptoms and the impact on functioning can vary widely among individuals with Apert syndrome. With appropriate medical care, support, and interventions, many individuals with Apert syndrome can lead fulfilling lives and achieve their goals.

Supportive services, such as early intervention programs, special education services, physical and occupational therapy, and counseling, can help individuals with Apert syndrome and their families manage the challenges associated with the condition and maximize their potential.