Living with Lung agenesis-heart defect-thumb anomalies syndrome
A rare inherited condition with a missing or underdeveloped lung, heart differences, and thumb differences, noticed during pregnancy.
Understanding Lung agenesis-heart defect-thumb anomalies syndrome
Heart differences can be complex, such as a hole in the wall between the upper chambers, lung veins that connect abnormally, or a patent ductus arteriosus. Thumb differences may be on one or both sides. Facial differences and other malformations have also been reported. It is noticed during pregnancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Missing or small lung
- Hole in the heart wall between the upper chambers (atrial septal defect)
- Abnormal lung veins (anomalous pulmonary venous return)
- Narrowing of the aorta (coarctation)
- Patent ductus arteriosus
- Breathing problems
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 and lung and breathing 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); Lung and breathing specialists (pulmonologists)
- 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 Kids with Heart National Association for Children's Heart Disorders
- 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
A child inherits a changed copy of the gene from each parent (autosomal recessive). GARD does not name a gene.
Also known as: lacht; mardini-nyhan association; mardini-nyhan syndrome
Patient organizations
- Kids with Heart National Association for Children's Heart DisordersLung agenesis-heart defect-thumb anomalies syndrome · United States
You are more than your diagnosis
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