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Apert syndrome
This condition causes bones in the skull to join prematurely, leading to a distinctive head and facial appearance. It also typically involves fusion of fingers and toes. Apert syndrome is present at birth.
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Overview
Apert syndrome is a rare genetic condition identified at birth, primarily affecting the development of the head, face, hands, and feet [PMID:31760010]. It is characterised by craniosynostosis, where the bones of the skull fuse together too early, altering the shape of the head and sometimes affecting brain development. Alongside these skull differences, individuals with Apert syndrome also typically have distinctive facial features and a condition called syndactyly, where fingers and toes are fused together.
The condition can vary in its presentation, but the combination of craniosynostosis and syndactyly is characteristic. While it affects the skeletal system, there can also be other health considerations. Apert syndrome affects approximately 1 in 65,000 live births.
Symptoms & clinical features
The main clinical features of Apert syndrome involve the skull, face, hands, and feet. Craniosynostosis, the premature fusion of skull bones, leads to a tall, pointed head shape (acrocephaly) and a prominent forehead. This can also result in a flattened back of the skull. The facial features often include bulging eyes, a small nose, and an underdeveloped upper jaw, which can affect dental alignment and breathing [PMID:24765691].
Characteristic hand abnormalities include syndactyly, where the bones and skin of several fingers are fused together. Typically, the second, third, and fourth fingers are fused, creating a 'mitten-like' appearance. Similar fusions can occur in the toes. Other symptoms may include recurrent ear infections, hearing difficulties, and occasionally problems with the heart, kidneys, or gastrointestinal tract, although these are less common.
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Affected organs
Apert syndrome primarily affects the skeletal system, particularly the skull, face, hands, and feet. The premature fusion of skull sutures (craniosynostosis) can impact the brain's growth and development. The facial bone abnormalities affect the structure of the eye sockets, nose, and upper jaw.
While the main impact is on bone development, other organ systems can sometimes be involved. For example, issues with breathing passageways, particularly in the nose and throat area, can occur due to the facial structure. Less commonly, effects on the heart, kidneys, or gastrointestinal system have been reported, although these are not universal features of the syndrome.
Risks & severity
The severity of Apert syndrome can vary between individuals, but the core features of craniosynostosis and syndactyly are consistently present. The premature fusion of skull bones can lead to increased pressure on the brain in some cases, which may require surgical intervention. If left untreated, severe craniosynostosis can sometimes lead to developmental challenges.
The skeletal differences, particularly in the hands and feet, can affect mobility and fine motor skills. Individuals with Apert syndrome may experience challenges with breathing due to their facial structure, and recurrent ear infections are common. While the condition primarily affects physical development, cognitive development is usually typical. The risks associated with Apert syndrome are largely related to the potential complications of craniosynostosis and the functional impact of hand and foot differences [PMID:31760010].
Genetic causes
Apert syndrome is caused by pathogenic variants, or changes, in the FGFR2 gene. This gene provides instructions for making fibroblast growth factor receptor 2 protein. This protein is vital for cell growth, particularly during early development, and plays a crucial role in the formation of bones and other tissues.
The FGFR2 protein acts like a sensor on the surface of cells, receiving signals that tell cells when to grow and divide. Pathogenic changes in FGFR2 in Apert syndrome lead to a protein that is overactive. This overactivity disrupts the normal signalling pathways involved in bone development, causing bones to fuse too early, particularly in the skull, hands, and feet. The specific changes in FGFR2 that cause Apert syndrome are well-recognised.
- FGFR2 fibroblast growth factor receptor 2The FGFR2 gene provides instructions for fibroblast growth factor receptor 2, a protein vital for cellular processes including growth, division, differentiation, and bone development.
Inheritance pattern
Apert syndrome is inherited in an autosomal dominant pattern. This means that a person only needs one copy of the altered FGFR2 gene to develop the condition. In most cases of Apert syndrome, the genetic change occurs spontaneously and is not inherited from a parent; this is known as a 'de novo' variant.
If an individual with Apert syndrome has a child, there is a 50% chance with each pregnancy that the child will also inherit the condition. This inheritance pattern applies whether the affected parent is male or female. For individuals where the condition resulted from a de novo variant, their parents are typically unaffected and do not carry the pathogenic variant.
Each child has a 50% chance of inheriting the pathogenic variant, regardless of sex.
Diagnosis & testing
Apert syndrome is typically diagnosed at birth based on the characteristic physical features, including the specific skull shape, facial features, and fused fingers and toes. Imaging studies, such as X-rays and CT scans, are often used to confirm the craniosynostosis and assess the extent of skeletal differences in the hands and feet.
Confirmation of Apert syndrome relies on genetic testing to identify a pathogenic variant in the FGFR2 gene. Referral to an NHS clinical genetics service is the usual pathway for genetic counselling and testing. The relevant NHS Genomic Medicine Service 'R-code' for craniosynostosis, which includes Apert syndrome, would guide testing decisions within the NHS.
Management & lifestyle
Management of Apert syndrome involves a multidisciplinary team approach within the NHS, often including craniofacial surgeons, plastic surgeons, neurosurgeons, and occupational therapists. Surgical interventions are typically required to address craniosynostosis, aiming to reshape the skull, relieve pressure on the brain, and allow for normal brain growth. These surgeries are often performed in infancy.
Further surgeries may be necessary to correct facial bone differences and separate fused fingers and toes to improve function. Ongoing care typically includes regular monitoring of hearing, vision, and dental health. Genetic counsellors can provide support and information about the condition and its inheritance. Lifestyle considerations may focus on supporting development through therapies like occupational or physiotherapy, as needed.
UK care pathway
Within the UK, individuals suspected of having Apert syndrome are typically referred to a specialist NHS clinical genetics service. This service provides expert assessment, genetic counselling, and access to gold-standard genomic testing services as part of the NHS Genomic Medicine Service. The specific test for Apert syndrome falls under the relevant NHS R-code for craniosynostosis.
Following diagnosis, care is managed by a multidisciplinary team, often coordinated through specialist craniofacial centres. Genetic counsellors play an important role, offering information and support to affected individuals and their families regarding the genetic basis of the condition, inheritance patterns, and reproductive options.
Frequently asked questions
Is Apert syndrome always inherited from a parent?
No, Apert syndrome is usually caused by a new genetic change (a 'de novo' variant) that occurs spontaneously, meaning it is not inherited from a parent. In rare cases, an affected parent may pass the condition on to their child.
What kind of medical care is needed for Apert syndrome?
Individuals with Apert syndrome typically require care from a team of specialists, including craniofacial surgeons, neurosurgeons, and occupational therapists. This often involves surgeries to correct skull and facial bone differences, and to separate fused fingers and toes.
Does Apert syndrome affect intelligence?
Most individuals with Apert syndrome have typical cognitive development, although developmental support may sometimes be beneficial. The primary challenges relate to the physical differences and potential need for surgical intervention.
Are there any support groups for families affected by Apert syndrome?
Yes, there are several patient advocacy and support organisations in the UK and globally that offer resources, information, and a community for individuals and families affected by Apert syndrome. Your genetic counsellor or clinical team can often provide details of these groups.
When are the surgeries typically performed for Apert syndrome?
Surgeries for craniosynostosis are often performed in infancy to reshape the skull and protect brain development. Further surgeries for facial features and hand/foot differences may be carried out at various stages throughout childhood and adolescence, as guided by the clinical team.
References
- Karsonovich T, Patel BC. Apert Syndrome. 2025. PMID: 30085535
- Gupta P, Sangwan P, Thakur V. Apert Syndrome. Indian dermatology online journal. 2025. PMID: 40709860
- Hanieh A, David DJ. Apert's syndrome. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery. 1993. PMID: 8252521
- Willie D, Holmes G, Jabs EW. Cleft Palate in Apert Syndrome. Journal of developmental biology. 2022. PMID: 35997397
- Ram A, Bharani A. Apert Syndrome. The Journal of the Association of Physicians of India. 2020. PMID: 32798349
- Droubi L, Laflouf M, Tolibah YA. Apert Syndrome: Dental management considerations and objectives. Journal of oral biology and craniofacial research. 2022. PMID: 35514675
- Yaghoobi R, Bagherani N, Tajalli M. Apert syndrome. Indian journal of dermatology, venereology and leprology. 2010. PMID: 21079334
- Kumar GR, Jyothsna M, Ahmed SB. Apert's Syndrome. International journal of clinical pediatric dentistry. 2014. PMID: 25206244