Living with Absence deformity of leg-cataract syndrome
A very rare condition present at birth with one leg missing or underdeveloped, scoliosis, short height, and cataracts.
Understanding Absence deformity of leg-cataract syndrome
It is marked by absence deformity of one leg, scoliosis that gets worse over time, short stature, and cataracts at birth. The cataracts come with optic nerve differences. No intellectual disability has been reported. GARD lists onset as during pregnancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Underdeveloped or absent lower leg
- Clouding of the eye lens (cataract)
- Scoliosis
- Visual impairment
- Prominent swayback (hyperlordosis)
- Anus not open (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 bone and joint specialists, eye disease specialists and genetic 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); Eye disease specialists (ophthalmologists); 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 changes in genes (also called variants) cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: leg, absence deformity of, with congenital cataract
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 Absence deformity of leg-cataract syndrome.
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