Apert Syndrome: Causes, Signs, Treatment, and What a Child's Outlook Looks Like
Updated: 2 days ago
Medically reviewed by Dr. Baraa Alnahhal, MD · Last reviewed: September 2026
TL;DR
Apert syndrome is a rare genetic condition, occurring in about 1 in 65,000 births, in which the joints (sutures) of a baby's skull fuse too early during fetal development. The cause is a mutation of the FGFR2 gene, which guides skeletal development, and the condition is autosomal dominant — meaning a parent with it has a 50% chance of passing it on, though most cases are new (de novo) mutations that no parent caused. Diagnosis relies on physical examination, imaging, and genetic testing, and treatment is centered on surgery — often beginning at 2 to 4 months of age to relieve brain pressure — followed by reconstructive procedures and therapies. There is no cure, but with surgery and ongoing specialist care, children typically have a regular life expectancy.
Quick Answer
Apert syndrome is a rare genetic condition occurring in 1 in 65,000 births, caused by a mutation of the FGFR2 gene that makes skull sutures fuse too early during fetal development.
It is autosomal dominant: if one parent has the condition, there is a 50% chance of passing it on, and the mutation can also be newly formed (de novo) with no family history.
The condition is defined by a taller, pointed skull, widely spaced or bulging eyes, and fused (webbed) fingers and toes, plus possible effects on the brain, hearing, breathing, skin, and teeth.
There is no cure, but surgery at 2 to 4 months of age plus reconstructive procedures and therapies allow most children to lead a normal life with a regular life expectancy.
What Is Apert Syndrome?
Apert syndrome is a rare condition where a baby is born with physical abnormalities because joints in their skull close too early. The joints between the skull bones are called sutures, and their premature fusion is a condition known as craniosynostosis.
The areas of a child's body that lead to an Apert syndrome diagnosis include the skull (particularly the point at the top of the head), the face (with bones forming in irregular places), and the feet and hands (with connected or webbed fingers and toes).
Because the early closure prevents the skull bones from developing normally, it causes characteristic changes to the facial bones and other structures. This explains why the condition shows up so visibly at birth — and why it affects parts of the body beyond the head.
Is Apert Syndrome Hereditary?
Apert syndrome is genetic and autosomal dominant, which means that one parent could pass the condition onto their child through their genes. If one parent has the condition, there is a 50% chance of having a child with Apert syndrome.
However, the causative mutation can also be newly formed (de novo) — appearing for the first time early in a pregnancy with no family history at all. It is important for parents to know that genetic mutations of this kind are not the result of anything the parent did while pregnant.
Inheritance factor | What it means |
Pattern | Autosomal dominant |
Chance of passing it on if one parent has it | 50% |
De novo cases | Mutation forms new, with no family history |
Parental cause | Mutations are not caused by anything a parent did during pregnancy |
How Common Is Apert Syndrome?
Apert syndrome is rare, occurring in 1 out of every 65,000 births. The condition is caused by a genetic mutation that occurs early during pregnancy, and because it is a de novo mutation in most cases, it can appear in families with no prior history.
What Are the Characteristics of Apert Syndrome?
Apert syndrome occurs when the sutures between bones in a baby's skull close early. Depending on which sutures closed too soon, the baby develops several defining physical characteristics that lead to the diagnosis.
Body area | Defining characteristic |
Skull | Head taller than normal and pointed at the top (acrocephaly); flat backside of the skull; high or broad forehead; soft spot may close late |
Eyes | Widely spaced eyes that may bulge or slant downward |
Face | Flat or beak-shaped nose; opening in the roof of the mouth (cleft palate); facial asymmetry |
Hands and feet | Short fingers with wide thumbs; fingers or toes connected and webbed (syndactyly) |
How Does Apert Syndrome Affect the Body Beyond Appearance?
Beyond the visible physical characteristics, Apert syndrome can also affect other organs as the child develops. These effects are a central part of the condition's day-to-day management.
Organ or system | Possible effect |
Brain | Pressure on the brain; disrupted learning and thinking (cognitive development); mild to moderate intellectual disabilities |
Ears | Altered ear formation; frequent ear infections; hearing loss |
Eyes | Vision problems from bulging, slanting, or wide-set eyes |
Lungs | Breathing problems or sleep apnea from blocked airways, depending on nose formation |
Skin | Excess oil production causing severe acne; more-than-normal sweating (hyperhidrosis); hairless skin patches, including missing eyebrows |
Teeth | Overcrowding; dental problems; missing teeth; irregular enamel |
What Causes Apert Syndrome?
A genetic mutation of the FGFR2 gene — fibroblast growth factor receptor-2, which is responsible for skeletal development — causes Apert syndrome. When the mutation occurs, receptors do not communicate with fibroblast growth factors, and the joints (sutures) between bones close too soon during fetal development.
When the sutures close early, the baby's brain is still growing. The bones in the skull — especially in the forehead and at the sides of the skull — change shape in response. The irregular formation of these bones leads to malformations of the body.
Key point: Nothing a parent did during pregnancy causes this mutation. It occurs randomly early in fetal development, whether or not it is inherited.
How Is Apert Syndrome Diagnosed?
Diagnosis of Apert syndrome normally occurs after the child is born, but an early diagnosis is possible during pregnancy with a prenatal 2D or 3D ultrasound or MRI to track the baby's skeletal development.
After birth, the diagnostic pathway involves several steps working together. The table below summarizes the process.
Diagnostic step | What it checks |
Physical examination | Identifies abnormalities of the skull, face, hands, and feet |
CT scan or MRI | Detects physical abnormalities and congenital defects present at birth |
Genetic testing | Looks for a mutation of the FGFR2 gene to confirm the diagnosis |
Newborn screenings | Standard screens, with emphasis on a hearing test to check for hearing impairment |
The genetic test is the confirmatory step, since the FGFR2 mutation defines the condition. Hearing assessment is emphasized because the altered ear formation common in Apert syndrome frequently causes hearing impairment.
How Is Apert Syndrome Treated?
Treatment for Apert syndrome varies based on the severity of the child's diagnosis, and it most often involves surgery to alleviate symptoms.
Surgery for Brain and Skull Pressure
If the child has symptoms that affect the skull or brain (craniosynostosis or hydrocephalus), the healthcare provider will schedule surgery between two to four months after birth. The surgery corrects the condition by inserting a tube (shunt) to drain the fluid and release pressure from the brain.
Reconstructive and Corrective Surgeries
Reconstructive or corrective surgery can adjust any part of the child's body that formed abnormally. The full range of possible procedures is listed below.
Surgery type | What it addresses |
Eye correction surgery | Bulging or slanting eyes |
Jaw reconstruction (osteotomy) | Abnormal jaw formation |
Chin surgery (genioplasty) | Chin shape |
Nose surgery (rhinoplasty) | Nose shape and airway |
Digit separation | Connected fingers and toes |
Skull reshaping (cranioplasty) | Abnormal skull shape |
Therapies and Daily-Management Treatments
With early intervention treatment advised by the healthcare provider, a child can reach their full potential. The supportive treatments below address the condition's side effects.
Support treatment | Addresses |
Hearing aids | Hearing impairments |
Breathing machines or treatments | Difficulties with airway obstruction |
Physical, occupational, and speech therapy | Development and communication |
Dental care | Teeth overcrowding and enamel problems |
Vision assessments | Eye-related concerns |
Is There a Cure for Apert Syndrome?
There is no known cure for Apert syndrome. However, surgery will significantly reduce a child's symptoms to help them lead a normal life.
What Can I Expect If My Baby Has Apert Syndrome?
Apert syndrome is a lifelong condition with no cure. Surgery to release pressure on the brain, along with reconstructive surgery, will occur soon after the baby is born, and close follow-up with multiple specialists is necessary.
After surgery and with ongoing treatment, babies born with Apert syndrome have a regular life expectancy. Families should stay up to date with the healthcare provider to address concerns that may arise as the child grows. Regular visits to examine vision, teeth, and hearing should be scheduled as the child develops, and follow-up surgery may be needed to target persistent symptoms.
Can Apert Syndrome Be Prevented?
Since Apert syndrome is a genetic condition, there is nothing parents can do to prevent it from occurring during pregnancy.
If you are planning on becoming pregnant, talk with your healthcare provider about genetic testing to see if you are at risk of passing certain genes onto your child. Genetic counseling helps explain the chances of having future children with the disorder and offers support to new parents.
Prevention-related option | What it does |
Genetic testing before pregnancy | Shows whether a parent carries the risk of passing on certain genes |
Genetic counseling | Explains the chances of future children having the disorder and supports parents |
Nothing preventable during pregnancy | The mutation cannot be prevented once pregnancy occurs |
When Should I See My Healthcare Provider?
Parents should visit the healthcare provider if they notice that the baby has trouble breathing, gets frequent ear infections or has trouble listening to simple commands, does not reach developmental milestones, or has an infection at a surgery site that becomes red, elevated, swollen, or oozes yellow or clear pus.
Warning sign | Why it matters |
Trouble breathing | Possible airway obstruction from facial and nose formation |
Frequent ear infections or hearing trouble | Hearing impairment is common and affects development |
Missed developmental milestones | Possible cognitive impact from brain pressure |
Red, swollen, or oozing surgery site | Possible post-surgical infection needing prompt care |
Questions to Ask Your Doctor
Question | What it clarifies |
What type of treatment do you recommend for my baby's diagnosis? | The tailored plan for your child's severity |
What are the risks of surgery? | Informed decision-making about procedures |
Will the shape of my baby's head affect how they learn? | Cognitive development expectations |
Is it likely that I will have another child with Apert syndrome? | Recurrence risk and genetic counseling needs |
Conclusion: Early Surgery and Lifelong Support Lead to a Full Life
Apert syndrome is rare — about 1 in 65,000 births — and nothing a parent does during pregnancy causes it. The FGFR2 gene mutation reshapes a baby's skull, face, hands, and feet before birth, but modern medicine has powerful tools to respond. Surgery to relieve brain pressure typically happens at just 2 to 4 months of age, followed by reconstructive procedures and therapies that let children develop toward their full potential. With surgery, ongoing specialist care, and regular vision, hearing, and dental checkups, most children with Apert syndrome have a regular life expectancy and lead normal lives.
Your next step: if prenatal imaging or a newborn exam suggests unusual skull or hand formation, ask for a pediatric specialist referral and genetic testing for the FGFR2 mutation right away. Keep every follow-up appointment, watch for the warning signs in this guide, and use genetic counseling before planning future pregnancies.
Frequently Asked Questions About Apert Syndrome
What causes Apert syndrome?
A genetic mutation of the FGFR2 gene (fibroblast growth factor receptor-2), which is responsible for skeletal development, causes Apert syndrome. The mutation stops receptors from communicating with fibroblast growth factors, so the skull sutures close too soon during fetal development.
Is Apert syndrome inherited?
It can be. Apert syndrome is autosomal dominant, so if one parent has the condition there is a 50% chance of passing it on. The mutation can also be newly formed (de novo) with no family history, and in either case it is not caused by anything the parent did during pregnancy.
How rare is Apert syndrome?
Apert syndrome occurs in 1 out of every 65,000 births, making it a rare condition.
What are the main signs of Apert syndrome?
The defining characteristics include a head that is taller than normal and pointed at the top (acrocephaly), a high or broad forehead, widely spaced eyes that may bulge or slant downward, a flat or beak-shaped nose, a cleft palate, and fused, webbed fingers and toes (syndactyly) with short fingers and wide thumbs.
At what age is surgery done for Apert syndrome?
If the child has symptoms affecting the skull or brain, such as craniosynostosis or hydrocephalus, surgery is typically scheduled between two and four months after birth to insert a shunt that drains fluid and releases brain pressure.
Can Apert syndrome be cured?
There is no known cure. Surgery significantly reduces symptoms, and with ongoing treatment children can lead a normal life.
What is the life expectancy for someone with Apert syndrome?
After surgery and with ongoing treatment, babies born with Apert syndrome have a regular life expectancy. Regular follow-up visits for vision, teeth, and hearing are important as the child grows, and follow-up surgeries may address persistent symptoms.
Can Apert syndrome be prevented?
No — because it is a genetic condition, nothing parents can do during pregnancy prevents it. Genetic testing and genetic counseling before pregnancy can clarify the risk of passing it to future children.
Related Articles You May Find Helpful
References
Medical disclaimer: This article is for general informational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay seeking it because of something you have read here. If you think you may have a medical emergency, call your doctor, go to the emergency department, or call emergency services immediately.
Comments