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Genetic syndromes and other conditions

Cornelia de Lange syndrome (CdLS)

A genetic syndrome that affects development. It causes slow growth, learning difficulties and differences in the arms and hands.

Not part of the panel of Türkiye's National Newborn Screening Programme (heel-prick test). Source

Prepare an emergency card

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?

One of the genes that control development in the womb is changed. In more than half of people, this gene is NIPBL. Growth, mental development, the face and the arms are affected. The signs range from mild to severe.

Which symptoms can occur?

Not everyone has the same symptoms. The following may be seen:

  • Slow growth before and after birth, short stature
  • Learning difficulties, often moderate or severe
  • Differences in the bones of the arms, hands and fingers
  • Eyebrows that meet in the middle, long eyelashes, a small upturned nose
  • Behaviors similar to autism
  • Excess body hair
  • Hearing loss and digestive problems, for example reflux
  • Sometimes cleft palate, a heart problem or seizures

How is it diagnosed?

The diagnosis is usually made from the examination and the typical signs. A genetic test confirms the diagnosis and is especially helpful when the signs are mild. Sometimes it can be suspected on an ultrasound before birth.

Treatment and care

Care is aimed at the symptoms and is supportive. Many specialists work together. A cleft palate or heart problem can be corrected with surgery. Reflux, hearing and feeding problems are monitored closely. A hearing aid can be helpful. Early support, special education and speech therapy are important. 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. Changes in NIPBL, RAD21 and SMC3 are passed on through dominant inheritance. In this case one copy is enough. Changes in HDAC8 and SMC1A are passed on through the X chromosome. In girls the signs may be milder. Genetic counselling is recommended.

Source: MedlinePlus Genetics: Cornelia de Lange syndrome · NORD: Cornelia de Lange Syndrome

Key facts

When does it usually start?
Before birth, Newborn period
Gene(s) involved
SMC1A, NIPBL, SMC3, HDAC8, RAD21, BRD4

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

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 Cornelia de Lange

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.

Questions you can ask your doctor

  • Could this trial be suitable for us?
  • If we take part, how would current treatment and check-ups be affected?
  • Where does the trial take place, and how are travel and accommodation handled?
  • What happens if we want to leave the trial?

ClinicalTrials.gov lists 4 active interventional studies for this disease. 3 are recruiting now; none has a site in Türkiye. Last checked: October 7, 2026.

Selected records (studies with a site in Türkiye first):

See all studies on ClinicalTrials.gov · Joining clinical trials

Genetic syndromes and other conditions: other news

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:199

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.

The information on these pages is for general information only and does not replace medical advice. Talk to your doctor about diagnosis and treatment decisions. In an emergency in Türkiye, call 112.

Every update is based on an open source and labeled with its level of evidence. No advertising and no drug brand names. Our scientific principles

This page was translated from Turkish by the Doktorclub editorial team.