Living with Lymphedema-atrial septal defects-facial changes syndrome
A rare inherited condition with swelling of the legs from birth, a heart wall opening, and a distinctive face.
Understanding Lymphedema-atrial septal defects-facial changes syndrome
The face is round, with a prominent forehead, a flat nasal bridge with a broad tip, eye folds, a thin upper lip, and a cleft chin. It has been described in two brothers and a sister. It begins in newborns and infants.
Signs & symptoms
GARD doesn't list a separate symptom list. Its summary describes these features:
- Swelling of the legs from lymph fluid (lymphedema)
- Atrial septal defect (heart wall opening)
- Round face with a prominent forehead
- Flat nasal bridge and broad nasal tip
- Cleft chin
- Thin upper lip
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 skin, hair, and nail 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); Skin, hair, and nail specialists (dermatologists)
- 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 Children's Skin Disease Foundation
- 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 transmission appears to be autosomal recessive, which means a child inherits a changed copy of the gene from each parent. It does not name a gene.
Also known as: irons bianchi syndrome; irons-bhan syndrome; irons-bianchi syndrome; lymphedema, atrial septal defect, and characteristic facies; lymphedema, atrial septal defect, facial changes syndrome; lymphedema, cardiac septal defects, and characteristic facies
Patient organizations
- Children's Skin Disease FoundationSkin diseases · United States
Broader rare-disease groups
- 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 Lymphedema-atrial septal defects-facial changes syndrome.
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