Living with Dubowitz syndrome
A very rare genetic condition with short height, a small head, distinct facial features, eczema, and learning and behavior differences.
Understanding Dubowitz syndrome
Typical features include slow growth and short height, a small triangular face, drooping eyelids, a small head, intellectual disability, and eczema. Other common findings are hyperactivity or autistic features, speech differences, sparse hair, foot differences, and learning or memory problems. GARD says there may be an increased risk of cancers such as leukemia or lymphoma. Diagnosis is based on symptoms, especially facial features, since there is no specific lab test.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small head size (microcephaly)
- Drooping upper eyelid (ptosis)
- Widely spaced eyes
- Eczema
- ADHD
- Poor weight gain (failure to thrive)
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, eye disease specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
World Craniofacial Foundation and National Foundation for Ectodermal Dysplasias 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); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: World Craniofacial Foundation, National Foundation for Ectodermal Dysplasias
- 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 World Craniofacial Foundation 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 the cause is still unknown. Some people have changes in the NSUN2 and LIG4 genes or missing or extra pieces of chromosomes. GARD lists autosomal recessive inheritance.
Also known as: dubowitz's syndrome
Patient organizations
- 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
- National Foundation for Ectodermal DysplasiasEctodermal dysplasias · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Dubowitz syndrome.
Explore research for Dubowitz syndrome
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- 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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