TürkiyeResearch and clinical trials
53 patients with early fusion of skull bones in Istanbul: Apert syndrome takes a more severe course
A center in Istanbul studied syndromes in which the skull bones fuse early.
Peer-reviewed publicationApert
Genetic syndromes and other conditions
Apert syndrome
An inherited disease in which the skull bones fuse early. The shape of the head and face is affected. The fingers and toes are joined together.
Not part of the panel of Türkiye's National Newborn Screening Programme (heel-prick test). Source
This page is translated from the Turkish original.
This disease is followed through the “Genetic syndromes and other conditions” group.
Understanding the disease
This section has not yet been reviewed by a physician. It summarises patient information from sources such as MedlinePlus, Orphanet and the NHS in plain language. The disease can differ from person to person; talk to your doctor about diagnosis and treatment.
What happens in this disease?
A change in the FGFR2 gene causes bone cells to mature too early. The skull bones fuse early and the head cannot grow normally. The middle part of the face looks sunken. The fingers and toes are also fused at birth.
Which symptoms can occur?
How severe the symptoms are varies from person to person.
- Early fusion of the skull bones
- Joined fingers and toes; usually three digits
- A sunken midface and bulging eyes
- Cleft palate and dental problems
- Vision problems and squint
- Hearing loss or frequent ear infections
- Narrowing of the airway
- Intelligence may be normal or mildly to moderately affected
How is it diagnosed?
The diagnosis is usually made by examination at birth or in infancy. The bones are looked at with CT or MRI. A genetic test of the FGFR2 gene confirms the diagnosis. Some signs can be seen on ultrasound before birth.
Treatment and care
Treatment is aimed at the symptoms. Early surgery on the skull may be needed. Reconstructive operations are done on the face, hands and feet. Hearing aids, physiotherapy, occupational therapy and special education provide support. Care continues with a team of specialists. The doctor who follows the disease decides which treatment is suitable.
For the family: inheritance and genetic counselling
It is passed on through dominant inheritance. Almost every case starts with a new gene change, with no family history. This risk increases as the father's age increases. For each child of an affected person, the chance of passing it on is 1 in 2. Genetic counselling is recommended.
Source: MedlinePlus Genetics: Apert syndrome · NORD: Apert Syndrome
Key facts
- How is it inherited?
- Autosomal dominant
- When does it usually start?
- Before birth, Newborn period
- Gene(s) involved
- FGFR2
- Reliable sources
- MedlinePlus (for families) · Orphanet
These facts are taken from Orphanet and MedlinePlus records (last checked: October 7, 2026). Frequency values are approximate ranges.
You are not alone: patient associations in Türkiye
Non-profit patient and family organizations in Türkiye working on this disease or disease group. Links are for information; Doktorclub is not affiliated with these organizations and does not endorse them.
We could not find a patient association specific to this disease.
For all rare diseases: Nadir Hastalıklar Federasyonu
Guides related to this disease
- Rare disease at school · Telling the school, medicines and emergency plan, inclusion and BEP, support education room, absences, LGS/YKS arrangements, peer bullying.
Support and help
- In an emergency in Türkiye, call 112.
- For psychological and social support, the ALO 183 Social Support Line (24/7, free from within Türkiye): alo183.aile.gov.tr
- For carers: Looking after yourself as a caregiver
- Preparing for a doctor visit · Collect your questions and symptom notes on one page, then print it and take it with you.
Doktorclub does not diagnose, recommend treatments or refer you to hospitals or doctors. These pages are meant to help you talk with your doctor.
News about Apert
Clinical trials (ClinicalTrials.gov)
A clinical trial is a regulated study that tests whether a new treatment is safe and whether it works, in patients who volunteer. Most trials look for a certain age, genetic change and health condition. Taking part is voluntary.
This list is not a treatment recommendation. Treatments tested in phase 1–3 trials are investigational (experimental): their efficacy and safety have not yet been proven and they are not approved treatments. Taking part depends on each trial’s criteria and a physician’s assessment; the first step is to talk to the doctor who manages your care.
ClinicalTrials.gov currently lists no active interventional studies for this disease. Last checked: October 7, 2026.
See all studies on ClinicalTrials.gov · Joining clinical trials
Genetic syndromes and other conditions: other news
TürkiyeResearch and clinical trials
Brain MRI findings in more than half of children with Noonan syndrome in Ankara
Ankara University reviewed the brain MRIs of children with Noonan syndrome.
Peer-reviewed publicationNoonan
TürkiyeResearch and clinical trials
Sotos syndrome study from 14 centers in Türkiye: 48 children studied
In Türkiye, 14 centers jointly studied children with Sotos syndrome and the similar Malan syndrome.
Peer-reviewed publicationSotos
FranceResearch and clinical trials
In Noonan syndrome, the cholesterol drug simvastatin did not benefit growth in a phase 3 trial
In France, simvastatin was compared with placebo in children with Noonan syndrome.
Peer-reviewed publicationNoonan
Medical codes (for talking with your doctor and finding sources)
These codes identify the disease in international classifications and databases. They can help when you talk with your doctor or look for reliable sources.
Orphanet code: ORPHA:87 · ICD-11 LD24.G2
Codes checked against WHO ICD-11 and Orphanet on October 7, 2026.
This page provides general information and does not replace diagnosis or treatment. Talk to your doctor about symptoms, diagnosis and treatment.