TürkiyeResearch and clinical trials
New gene findings in 13 patients with Kabuki syndrome from Türkiye
Genetics teams in Ankara and Trabzon studied patients with Kabuki syndrome.
Peer-reviewed publicationKabuki
Genetic syndromes and other conditions
Kabuki syndrome
A genetic syndrome present from birth. It causes a typical facial appearance, developmental delay and short stature.
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?
Most people have a change in the KMT2D gene, and a few in the KDM6A gene. These genes control the switching on of other genes during development. This is why the face, skeleton, brain and some organs develop differently. The name comes from the resemblance of the facial appearance to the make-up of Japanese Kabuki theatre.
Which symptoms can occur?
Symptoms range from mild to severe. The following may be seen:
- Arched eyebrows, long eyelashes, long eye openings
- Developmental delay and learning difficulties
- Short stature
- Low muscle tone (floppiness)
- Prominent pads on the fingertips
- Curvature of the spine, short little finger
- Heart problems, frequent ear infections and hearing loss
- Cleft palate and dental problems
How is it diagnosed?
The diagnosis is made with a genetic test or from the typical signs. The genetic test looks at the KMT2D and KDM6A genes. If the result is unclear, a special 'epigenetic signature' test can help.
Treatment and care
There is no approved treatment specifically for the disease; research is ongoing. Care is aimed at the symptoms and is provided by a team. Early support, special education, physiotherapy and speech therapy are important. A heart problem, cleft palate, or hip or spine problem may need surgery. A hearing device or surgery may be considered for hearing loss. Growth hormone treatment may be tried in some children. The doctor who follows the disease decides which treatment is suitable.
For the family: inheritance and genetic counselling
In most children the gene change is new and no one else in the family is affected. A KMT2D change is passed on through dominant inheritance. For each child of an affected parent, the chance is 1 in 2. A KDM6A change is passed on through the X chromosome. Genetic counselling is recommended.
Source: MedlinePlus Genetics: Kabuki syndrome · NORD: Kabuki Syndrome
Key facts
- How common is it?
- Prevalence: 1-9 per 100 000 (Europe)
- When does it usually start?
- Before birth, Infancy, Newborn period
- Gene(s) involved
- KMT2D, KDM6A
- 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 Kabuki
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:2322
No separate ICD-11 code; WHO classifies this disease under: LD2F.1Y
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.