Living with De Lange syndrome
A developmental condition affecting many parts of the body, with slow growth, learning challenges, and distinct facial features.
Understanding De Lange syndrome
Features range from mild to severe. They include slow growth before and after birth leading to short stature, usually moderate to severe intellectual disability, and differences in the bones of the arms and hands. Many people have distinctive facial features and some have features like autism spectrum disorder.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature from slow growth
- Intellectual disability
- Small head size (microcephaly)
- Hearing loss
- Acid reflux
- Cleft palate
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists, brain and nervous system specialists, digestive system specialists and ear, nose, and throat specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Cornelia de Lange Syndrome Foundation, Inc., Little People of America and World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Digestive system specialists (gastroenterologists); Ear, nose, and throat specialists (otolaryngologists)
- Expert care
- Expert lists: Cornelia de Lange Syndrome Foundation, Inc., Little People of America, World Craniofacial Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Cornelia de Lange Syndrome Foundation, Inc. and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes cause this condition. It lists both autosomal dominant and X-linked inheritance.
Also known as: amsterdam dwarf; brachmann de lange syndrome; brachmann-de lange syndrome; bruck-de lange syndrome; cdl; cdls
Patient organizations
- Cornelia de Lange Syndrome Foundation, Inc.De Lange syndrome · United States
- Little People of AmericaDe Lange syndrome · United States
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- FACES: The National Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with De Lange syndrome.
Explore research for De Lange syndrome
Explore actively recruiting De Lange syndrome studies with HealthSpark.
Find actively recruiting studies for De Lange syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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