Summary about Disease
Apert syndrome is a rare genetic disorder characterized by malformations of the skull, face, hands, and feet. The most distinctive feature is craniosynostosis, where certain skull bones fuse prematurely, affecting the shape of the head and face. Syndactyly, or fusion of the fingers and toes, is also a common characteristic. The severity of symptoms can vary widely among individuals with Apert syndrome.
Symptoms
Craniosynostosis: Premature fusion of skull bones, leading to an abnormally shaped head. Common head shapes include a tall, pointed head (acrocephaly) or a flattened appearance.
Midface hypoplasia: Underdevelopment of the midface, resulting in a flattened facial appearance and potentially causing breathing and feeding difficulties.
Syndactyly: Fusion of the fingers and toes, often involving complex fusions. The hands are typically more severely affected than the feet.
Vision problems: Including strabismus (crossed eyes), exophthalmos (protruding eyes), and potential for vision loss.
Hearing loss: Can be conductive, sensorineural, or mixed.
Cleft palate: An opening in the roof of the mouth.
Dental problems: Including crowded teeth, delayed eruption, and increased risk of cavities.
Intellectual disability: Can range from normal intelligence to mild to moderate intellectual disability.
Other possible features: Acne, skin abnormalities, respiratory problems, cardiac defects, and gastrointestinal issues.
Causes
Apert syndrome is caused by mutations in the FGFR2 gene (fibroblast growth factor receptor 2). These mutations lead to abnormal signaling during development, affecting bone growth and differentiation, particularly in the skull, face, hands, and feet. The syndrome usually occurs as a spontaneous new mutation, meaning it is not inherited from parents. However, once an individual has Apert syndrome, they have a 50% chance of passing the gene on to their offspring.
Medicine Used
There is no specific medication to cure Apert syndrome. Treatment focuses on managing the symptoms and complications. Medications may include:
Pain relievers: To manage pain associated with surgeries or other medical procedures.
Antibiotics: To treat infections that may arise.
Medications for respiratory issues: To manage breathing difficulties.
Specialized formulas: To address feeding problems in infants. The primary treatments are surgical and may include craniofacial surgery to correct skull and facial malformations, surgery to separate fused fingers and toes, and other procedures to address specific medical issues.
Is Communicable
No, Apert syndrome is not communicable. It is a genetic disorder caused by a gene mutation and cannot be spread from person to person.
Precautions
Since Apert syndrome is a genetic condition and not contagious, general precautions to prevent its spread do not apply. Prenatal genetic testing, such as amniocentesis or chorionic villus sampling, can be performed if there is a family history of Apert syndrome or if parents are concerned about the risk of having a child with the condition. Supportive care is essential, involving a multidisciplinary team of specialists to address the various medical needs of individuals with Apert syndrome.
How long does an outbreak last?
Apert syndrome is not an infectious disease; it is a genetic disorder, therefore the concept of an outbreak does not apply. It is present from birth and is a lifelong condition requiring ongoing management.
How is it diagnosed?
Apert syndrome is typically diagnosed based on physical examination, characteristic clinical features (especially the skull and limb malformations), and radiographic studies (X-rays, CT scans) to evaluate the skull and skeletal abnormalities. Genetic testing to identify the FGFR2 gene mutation can confirm the diagnosis. Prenatal diagnosis is possible through amniocentesis or chorionic villus sampling.
Timeline of Symptoms
Prenatal: Possible detection through prenatal ultrasound showing limb or skull abnormalities.
At Birth: Obvious craniosynostosis (abnormal skull shape) and syndactyly (fused fingers and toes).
Infancy: Feeding difficulties, breathing problems, developmental delays may become apparent.
Childhood: Ongoing challenges related to vision, hearing, speech, and intellectual development. Surgical interventions are often performed during this period.
Adulthood: Continued monitoring for potential complications such as respiratory issues, dental problems, and psychological well-being.
Important Considerations
Multidisciplinary Care: Requires a team of specialists, including craniofacial surgeons, plastic surgeons, neurosurgeons, ophthalmologists, audiologists, geneticists, developmental pediatricians, and therapists.
Surgical Interventions: Multiple surgeries are often required throughout life to address skull, facial, and limb malformations.
Psychosocial Support: Addressing the emotional and social challenges faced by individuals with Apert syndrome and their families is crucial.
Long-Term Monitoring: Regular follow-up appointments are necessary to monitor for potential complications and ensure optimal health and well-being.
Genetic Counseling: Important for families to understand the genetic basis of Apert syndrome and the risk of recurrence in future pregnancies.