Living with Microcephaly-cardiac defect-lung malsegmentation syndrome
A very rare syndrome with a small head, heart and kidney differences, lung shape differences, and cleft palate.
Understanding Microcephaly-cardiac defect-lung malsegmentation syndrome
GARD describes this syndrome as a combination of a small head (microcephaly), heart defects, small or missing kidneys, differences in how the lungs are divided into lobes, and cleft palate. It is seen in the newborn period or infancy. Other features can include a small lower jaw, low muscle tone, and thinking and learning difficulties.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Smaller-than-average head size (microcephaly)
- Hole between the lower heart chambers (ventricular septal defect)
- Cleft palate
- Absent or small kidney
- Differences in how the lungs are divided into lobes
- Low muscle tone (hypotonia)
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 heart and blood vessel 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); Heart and blood vessel specialists (cardiologists)
- 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
Changes in genes (also called variants) cause this syndrome, and it is inherited in an autosomal recessive way. This means a child inherits a changed copy of the gene from each parent.
Also known as: ellis yale winter syndrome; ellis-yale-winter syndrome; microcephaly, congenital heart disease, lung segmentation defects and unilateral renal agenesis; microcephaly, congenital heart disease, unilateral renal agenesis, and hyposegmented lungs
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 Microcephaly-cardiac defect-lung malsegmentation syndrome.
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