Apert Syndrome: Causes, Treatments, Symptoms & More
Apert syndrome is a rare genetic disorder classified under the category of skull development syndromes. It is characterized by the premature fusion of the coronal sutures, which inhibits skull expansion as the brain grows. This results in distinctive abnormalities in the shape of the head and facial features.
Understanding the symptoms, causes, and management strategies for Apert syndrome is crucial as this knowledge can help you recognize potential signs of the condition and the importance of seeking medical attention.
Understanding Apert Syndrome
Apert syndrome is an inherited and rare genetic condition affecting about 1 in 65,000 births. French physician Eugène Apert first described it in the early 20th century. The condition presents with unique and noticeable cranial and facial characteristics.
In newborns, fibrous joints in the skull typically remain open to accommodate brain growth. In Apert syndrome, these joints close prematurely, distorting the head and face as the brain grows. This can increase intracranial pressure, necessitating early intervention to manage complications.
Primary Cause and Inheritance Factor
Apert syndrome arises from mutations in the FGFR2 gene, which is crucial for bone and brain tissue development. Nearly all cases are linked to two specific mutations (S252W or P253R), which alter single amino acids and create a constantly active FGFR2 protein.
About 95% of cases result from mutations during fetal development inside the womb, occurring randomly in individuals with no family history. However, a parent with Apert syndrome has a 50% chance of passing the altered gene to their child, resulting in the same disorder.
Symptoms of Apert Syndrome
Apert syndrome is a genetic disorder that manifests in various physical and developmental symptoms. It significantly affects bone development, the brain, and sensory functions. Understanding these is critical for managing and treating the condition.
Distinct Facial Features
Apert syndrome often results in specific facial characteristics due to the abnormal growth and fusion of skull and facial bones. These changes significantly affect appearance and can lead to various functional, social, and emotional issues.
Hallmark features include a sunken midface, protruding eyes from shallow eye sockets, and an underdeveloped upper jaw, which causes crowded teeth and a cleft palate. These features can affect breathing and vision, impacting overall health and quality of life.
Breathing Issues
Respiratory issues are common in individuals with Apert syndrome, arising from structural abnormalities in the craniofacial region. Underdevelopment of the midface leads to a smaller nasal cavity and airway passages, causing airway compression or obstruction, noisy breathing, and difficulty breathing during sleep.
This structural abnormality can contribute to obstructive sleep apnea and other breathing difficulties. Depending on the severity of the condition, the formation of the nasal and airway structures can significantly affect breathing, potentially resulting in blocked airways and sleep apnea.
Skull Malformation
In Apert syndrome, premature fusion of the skull bones, known as craniosynostosis, leads to an atypical head shape. This includes brachycephaly, characterized by a short and broad head shape, and turribrachycephaly, characterized by a high, tower-like skull.
The early fusion of skull bones can increase intracranial pressure, potentially causing sensory problems stemming from its effects on the brain. This increased pressure and the resulting misshapen skull can lead to various neurological and physical complications.
Hand and Foot Deformity
Apert syndrome features webbing or fusion of the fingers and toes, known as syndactyly. These hallmark abnormalities significantly affect the function and appearance of the hands and feet, leading to mitten hands, where fingers are fused together, and the digits of the foot appear webbed.
The fusion of fingers and toes can range from partially to completely fused, making tasks that require fine motor skills challenging. This restriction severely impacts movement and agility, complicating essential daily activities such as writing, grasping objects, and walking.
Delayed Brain Development
Delayed brain development is a significant concern in individuals with Apert syndrome, influenced by structural abnormalities, increased intracranial pressure, and genetic factors. Developmental delays can affect cognitive, speech, and motor skills, impacting overall growth and functionality.
Premature fusion of the skull can indirectly affect brain development by limiting space for growth, leading to increased intracranial pressure. This elevated pressure can damage brain tissue, contributing to developmental delays.
Hearing Loss
Hearing loss may result from recurrent ear infections or structural abnormalities in the ear canals or middle ear bones. The premature fusion of skull bones affects the ear canals and middle ear structures, possibly leading to conductive hearing loss.
Underdevelopment of the midface can alter the anatomy of the eustachian tubes, hindering fluid drainage from the middle ear and causing frequent ear infections. These issues impede sound transmission, affecting hearing ability and a child’s speech and language development.
Vision Problems
Vision problems in this condition arise from skull and facial abnormalities. Midface underdevelopment leads to shallow orbits and bulging eyes (proptosis), increasing injury risk and making it hard for eyelids to close completely.
This condition influences orbit shape and eye alignment, causing blurred vision from refractive errors or corneal damage. Complications include reduced visual sharpness due to optic nerve involvement and loss of peripheral vision from structural abnormalities or nerve damage.
Severe Acne and Sweating
Severe acne and hyperhidrosis (sweating) are common in this condition, often emerging during adolescence. The gene mutation that causes Apert syndrome may also influence the skin’s sebaceous glands, increasing oil production and leading to severe inflammatory acne involving the face, chest, and back.
Hyperhidrosis, or excessive sweating, mainly affects the hands and feet. This can be uncomfortable and may exacerbate skin conditions like acne. Together, these symptoms can significantly impact daily life and self-esteem.
Confirming Apert Syndrome
Diagnosing apert syndrome requires a comprehensive approach to accurately confirm its presence and severity. Various diagnostic procedures help piece together the overall diagnosis. These steps are essential for formulating an effective management plan.
Physical Exam and History Review
The initial step in diagnosing Apert syndrome involves a physical exam. Healthcare providers check for distinctive signs, such as head shape, facial features, and limb condition. The examination also looks for the condition’s hallmark signs, such as cranial, facial, and limb abnormalities.
A thorough history review focuses on prenatal complications, any family members with similar craniofacial abnormalities, and known genetic disorders, particularly autosomal dominant conditions. This initial assessment is critical for determining the need for further diagnostic testing.
Diagnosis During Pregnancy
Prenatal diagnosis is an essential diagnostic tool for detecting Apert syndrome. Detailed fetal ultrasound can identify physical anomalies associated with the syndrome, such as craniosynostosis or premature fusion of skull bones as well as fusion of the fingers and toes.
Genetic testing methods like amniocentesis and chorionic villus sampling analyze fetal cells for FGFR2 mutations responsible for Apert syndrome. These tests involve extracting amniotic fluid or placental tissue and provide valuable information for early intervention planning and preparation for the expectant parents.
Hearing and Vision Tests
Newborn screening includes hearing tests after birth, which detect early hearing loss in infants. Audiometry assesses hearing acuity and detects conductive or sensorineural hearing loss associated with craniofacial anomalies, and tympanometry evaluates middle ear function.
Vision tests include a comprehensive ophthalmologic exam for refractive errors, strabismus, and optic nerve abnormalities. Regular hearing and vision assessments are crucial from infancy onward, as Apert syndrome can cause progressive changes in hearing and vision.
Imaging Tests
Imaging tests, including X-rays, CT scans, and MRI, are essential in diagnosing Apert syndrome. These tests offer detailed images of the skull bones, facial bones, hands, and feet, enabling assessment of the extent of bone fusion and development abnormalities.
Imaging can also evaluate the impact of these abnormalities on the brain and other structures within the skull. The clarity and detail from imaging tests are essential for planning surgical interventions or treatments for the related signs and symptoms.
Genetic Testing
Genetic testing is a definitive diagnostic tool for Apert syndrome, typically involving collection of a blood sample. Alternatively, saliva or buccal swabs can be used. This process involves analyzing DNA to identify FGFR2 gene mutations responsible for the condition.
A positive test confirms Apert syndrome, providing a clear genetic culprit. This information is vital for genetic counseling, assessing the risk of passing the condition to future generations, guiding family planning decisions, and informing potential interventions.
Managing Apert Syndrome
While there is no cure for Apert syndrome, a multidisciplinary approach addresses its diverse effects on physical health, development, and quality of life. Interventions are tailored to each individual’s needs, aiming to improve function, appearance, and self-esteem.
Head and Face Surgery
Craniofacial surgery is often necessary to correct the skull and facial abnormalities caused by Apert syndrome. These surgeries prevent or relieve increased intracranial pressure, enhance facial appearance and function, and provide ample space for proper brain development.
This surgery facilitates normal brain growth and reduces the risk of neurological complications. Surgical interventions are tailored to the individual’s specific needs and the severity of their condition. Successfully performed surgeries can significantly improve breathing, vision, and overall facial structure compared to those who have not received therapeutic procedures.
Hand and Foot Correction
Surgery allows for the separation of fused fingers and toes, improving mobility and agility. Hand surgery improves daily activity performance, fine motor skills, and agility, while foot surgery enhances mobility and supports a normal gait for better balance and independence.
These surgeries prevent joint stiffness and contractures resulting from untreated syndactyly and address skin and nail care issues in fused digits. Overall, such interventions are vital for performing daily activities, improving self-care abilities, and boosting self-confidence.
Dental Procedures
Dental surgery addresses the dental and jaw abnormalities common in Apert syndrome. Due to underdeveloped jaws, individuals may experience crowded teeth, misalignment, and other dental issues that require specialized corrective procedures.
Orthodontic treatments can correct these problems, improving the ability to chew, speak, and breathe. Proper dental care and surgeries enhance the functionality and aesthetics of the smile, significantly contributing to overall well-being and self-esteem.
Speech Therapy
Speech therapy is essential for individuals with Apert syndrome who may experience speech and language development difficulties. This therapy focuses on enhancing the ability to communicate effectively, which is vital for social interactions and academic progress.
Speech therapists use various techniques to improve articulation, comprehension, and expressive language skills. Regular sessions can significantly help in overcoming communication barriers associated with the syndrome.
Physical and Occupational Therapy
Physical and occupational therapy are crucial for improving motor skills, coordination, and overall physical function in children with Apert syndrome. Early intervention in these therapies helps maximize the child’s development and fosters greater independence in daily activities.
These therapies focus on strengthening muscles, enhancing mobility, and developing fine motor skills, especially after therapeutic surgery or while waiting until they are eligible. Physical and occupational therapy is vital to improving the child’s quality of life and ability to perform everyday tasks independently.
Supportive Breathing Machines
Breathing machines like continuous positive airway pressure (CPAP) manage airway obstructions in children with Apert syndrome. CPAP delivers a continuous stream of pressurized air to keep the airway open during sleep, managing oxygen deprivation during obstructive sleep apnea and improving the quality of sleep.
Bilevel Positive Airway Pressure (BiPAP) provides two pressure levels to ease breathing- a higher pressure during inhalation and a lower pressure during exhalation. It is used for severe breathing difficulties or CPAP intolerance, improving ventilation efficiency and maintaining adequate oxygenation.
Psychological Support
Living with Apert syndrome can pose significant psychological and emotional challenges, making psychological support an integral part of treatment. Counseling and therapy sessions provide a safe space to address feelings of isolation, frustration, or low self-esteem.
Including the family in psychological support is essential, as they directly support individuals affected by Apert syndrome. Family participation in therapy helps strengthen coping strategies and resilience thereby fostering a positive self-image and enhancing overall quality of life.
Vision and Hearing Management
Vision and hearing management in individuals with Apert syndrome involves regular monitoring, medical treatment, and supportive therapy for complications. These problems are common due to craniofacial abnormalities and recurrent ear infections.
A multidisciplinary approach is essential to address the complex needs associated with this condition and ensure the best possible outcomes for affected individuals. Interventions may include corrective lenses or glasses, lubricating eye drops, hearing aids, or surgeries to address underlying structural issues.
Frequently Asked Questions
What causes Apert syndrome?
Apert syndrome is a genetic disorder caused by mutations in the FGFR2 gene, crucial for developing and maintaining bone and brain tissue. Nearly all cases of the syndrome are linked to two specific mutations in the gene.
These mutations result in a constantly activated FGFR2 protein, leading to the premature fusion of skull bones and other abnormalities associated with Apert syndrome. This abnormal protein activity disrupts normal skeletal development, causing the condition’s characteristic features.
What are some of the symptoms of Apert syndrome?
Symptoms of Apert syndrome can vary but primarily include physical and developmental abnormalities. These include distinct facial features such as a sunken midface and protruding eyes, respiratory issues like sleep apnea, and a misshapen skull due to early skull bone fusion.
Other common symptoms are hand and foot abnormalities like fused fingers and toes (syndactyly). Developmental delays, including cognitive challenges, speech and motor skill delays, hearing loss, vision problems, severe acne, and hyperhidrosis, are frequently observed in individuals with Apert syndrome.
How is Apert syndrome diagnosed?
The diagnosis of Apert syndrome involves a comprehensive approach, including a physical examination, a review of medical history, prenatal diagnosis, hearing and vision tests, imaging tests like X-rays, CT scans, and MRIs, and genetic testing, helping identify the condition and its severity.
The physical exam checks for the syndrome’s hallmark signs and guides succeeding diagnostic procedures, while imaging tests provide detailed visibility of bone structures and abnormalities. Genetic testing, which identifies specific mutations responsible for the syndrome, provides a definitive diagnosis, confirming the presence of Apert syndrome.
How is Apert syndrome managed and treated?
There is no cure, but a multidisciplinary approach addresses its effects on health and development. Craniofacial surgery corrects skull and facial abnormalities, surgical interventions like hand and foot surgery for mobility, and dental surgery for jaw issues.
This includes speech therapy for communication problems, physical and occupational therapy, and psychological support for social and emotional health. Supportive breathing machines also aid those with obstructive sleep apnea. Additionally, vision and hearing management, like corrective lenses and glasses, eyedrops, and hearing aids, are used to improve quality of life.
