Living with Thakker-Donnai syndrome
A very rare genetic condition with differences in the face, spine, brain, heart, and digestive system from birth.
Understanding Thakker-Donnai syndrome
It affects the face, spine, brain, heart, and digestive system. It is noticed during pregnancy or in the newborn period. GARD says there have been no further descriptions in the medical literature since 1991.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Wide-set eyes and a bulbous nose
- Ears rotated toward the back of the head
- Missing or partial vertebrae (hemivertebrae)
- Missing nerve fibers joining the brain halves
- Hole between the lower heart chambers
- No anal opening (anal atresia)
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 genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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 this condition is autosomal recessive, so a child inherits a changed copy of a gene from each parent. It doesn't name a specific gene.
Also known as: dysmorphic facial features and multiple structural abnormalities; dysmorphism multiple structural anomalies; dysmorphism-multiple structural anomalies syndrome; facial dysmorphism with multiple malformations
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Thakker-Donnai syndrome.
Explore research for Thakker-Donnai 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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