Living with Heart defects-limb shortening syndrome
A rare syndrome present at birth with short limbs, spine bone differences, and heart defects.
Understanding Heart defects-limb shortening syndrome
The bone differences include clefts in the spine bones (coronal clefting of the vertebral bodies) and short limbs. Heart defects vary and can include holes in the heart walls, an underdeveloped right ventricle, and valve defects. GARD says there have been no further descriptions in the literature since 1990. It is noticed in the newborn period.
Signs & symptoms
Symptoms vary. GARD lists these among the most common:
- Short limbs and short stature
- Differences in the spine bones
- Hole between upper heart chambers (atrial septal defect)
- Hole between lower heart chambers (ventricular septal defect)
- Heart valve differences
- Rib differences
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, 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
- Bone and joint specialists (orthopedists or orthopedic surgeons); 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 cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive). GARD does not name the gene.
Also known as: cardioskeletal syndrome kuwaiti type; heart defect and limb shortening syndrome; heart defects and limb shortening
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 Heart defects-limb shortening syndrome.
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