Apert Syndrome: Causes, Symptoms, and Treatment
Medically reviewed by Achuta Uppu, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Apert Syndrome?
A medical geneticist, a doctor who treats inherited conditions, often confirms Apert syndrome. A craniofacial surgeon operates on the skull and face. Children may also see an eye doctor and a hearing specialist. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is Apert syndrome?
Apert syndrome is a genetic condition that affects how the skull, face, hands, and feet form. The seams between the skull bones, called sutures, close earlier than normal. This early closing is called craniosynostosis. It stops the skull from growing normally and changes the shape of the head and face.
Apert syndrome also causes syndactyly. That means a varied number of fingers and toes are fused together.
Symptoms
The signs vary from person to person. Common features include:
- Early closing of the skull sutures, with ridges felt along the seams.
- A sunken look in the middle of the face, a beaked nose, and a wrinkled forehead.
- An opening in the roof of the mouth (a cleft palate) and crowded or missing teeth.
- Bulging or wide-set eyes, and eyes that do not look in the same direction.
- Fused fingers or toes, often the 2nd, 3rd, and 4th fingers, sometimes called "mitten hands".
- Hearing loss and frequent ear infections.
Thinking skills range from normal to mild or moderate intellectual disability. Abnormal development of structures in the face and head can partly block the airways and lead to breathing difficulties. Other signs include heavy sweating, oily skin with severe acne, short height, and patches of missing hair in the eyebrows.
Causes and who gets it
Changes (mutations) in a gene called FGFR2 cause Apert syndrome. This gene helps tell immature cells to become bone cells before birth. The change makes the cells signal too much, so skull, hand, and foot bones fuse too soon.
It is inherited in an autosomal dominant pattern. One altered copy of the gene is enough to cause it. But nearly all cases are new mutations in a family with no history of it. Apert syndrome affects an estimated 1 in 65,000 to 88,000 newborns, and the risk is higher in older fathers.
How doctors diagnose it
A doctor uses a physical exam of the skull, hands, and feet. X-rays of the hand, foot, and skull are done. Hearing tests should always be performed. Genetic testing can confirm the diagnosis. Before birth, your provider can test the baby for this condition if there are signs of it on the ultrasound.
Treatment
Treatment is surgery to correct the abnormal bone growth of the skull, and surgery to separate the fused fingers and toes. Children with this disorder should be examined by a specialized craniofacial surgery team at a children's medical center. Hearing tests should always be performed, and a hearing specialist should be consulted if there are hearing problems.
When to see a doctor
Contact your provider if you have a family history of Apert syndrome or you notice your baby's skull is not developing normally. A large or late-closing soft spot on a baby's skull should also be checked. Call 911 if your baby has trouble breathing, since airway blockage can happen with this condition. Also call 911 for a seizure, blue or grey skin, unusual sleepiness, or severe headache or vomiting in a child. Genetic counseling may help families planning a pregnancy.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. Either can spot early signs at baby checkups and refer your child to the right specialists. They can also follow the family over the long term and coordinate care between visits.
Common questions
Can Apert syndrome be prevented?
No, it is a genetic condition that cannot be prevented. Genetic counseling may be helpful if you have a family history and are planning to become pregnant.
How often does it happen?
Apert syndrome affects an estimated 1 in 65,000 to 88,000 newborns. Most cases are new gene changes with no family history. The risk is increased in older fathers.
Will my child have learning problems?
Thinking skills range from normal to mild or moderate intellectual disability. Early support can help each child.
What do the hands and feet look like?
Fingers and toes can be fused together, called syndactyly. The 2nd, 3rd, and 4th fingers are often joined, sometimes called "mitten hands". The hands tend to be more severely affected than the feet. Rarely, there are extra fingers or toes.
Sources
- MedlinePlus - Apert syndrome: MedlinePlus Genetics
- MedlinePlus - Apert syndrome: MedlinePlus Medical Encyclopedia
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
