How do I know if I have Apert Syndrome?

Apert Syndrome is a genetic condition typically diagnosed at birth or in early infancy based on the presence of craniosynostosis (the premature fusion of skull bones) and complex syndactyly (webbing of the fingers and toes).

Recognizing the Signs

If you or your child are concerned about Apert Syndrome, look for specific physical indicators. The hallmark of the condition is the fusion of the fingers and toes, often referred to as "mitten hands," alongside a distinct facial appearance caused by the premature closure of skull sutures. This often results in a high, prominent forehead, widely spaced eyes, and an underdeveloped midface. While these features are usually identified at birth, milder cases may be investigated later if developmental delays or breathing difficulties arise.

When to Consult a Physician

If you suspect Apert Syndrome, schedule an appointment with a clinical geneticist or a craniofacial specialist. When speaking with your doctor, be specific: request an evaluation for craniosynostosis and genetic testing for mutations in the FGFR2 gene. It is important to distinguish the unique pattern of Apert Syndrome from normal variation or other craniosynostosis syndromes by focusing on the specific combination of hand/foot webbing and midface hypoplasia.

Urgent Red Flags

Seek urgent medical care if you notice signs of increased intracranial pressure, such as persistent vomiting, lethargy, or sudden changes in vision. Respiratory distress, particularly during sleep, also requires immediate evaluation, as airway management is a priority for individuals with Apert Syndrome.

Self-Advocacy

If your concerns are dismissed, do not hesitate to seek a second opinion from a specialist at a major academic medical center or a dedicated craniofacial clinic. You know your body or your child best; if you feel something is amiss, ask for a formal referral to a genetics department. Apert Syndrome is a complex, multisystem condition, and early diagnosis is key to accessing the multidisciplinary care team required for the best outcomes.

Disclaimer: This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions regarding a medical condition.

References

• NIH Genetic and Rare Diseases Information Center (GARD)


• Orphanet: The portal for rare diseases and orphan drugs


• Online Mendelian Inheritance in Man (OMIM)


• Apert Syndrome Support International