Living with Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
An extremely rare syndrome present from birth with missing finger and toe bones, spine differences, and urinary and bowel differences.
Understanding Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
It has been described in only 3 people so far. Finger and toe bones may be small or missing, and some spine bones are only partly formed (hemivertebrae). There can also be differences in the urinary tract, genitals, and rectum. GARD notes there have been no further descriptions in the medical literature since 1991.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small or missing finger and toe bones
- Partly formed spine bones (hemivertebrae)
- Fused fingers and toes (syndactyly)
- Missing nails (anonychia)
- Small or missing kidney
- Persistent cloaca (shared opening for urine, bowel, and genitals)
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 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); 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 syndrome. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: aphalangy with hemivertebrae; aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome; johnson munson syndrome; johnson-munson syndrome
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 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome.
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