Living with Absent radius-anogenital anomalies syndrome
A rare genetic condition with missing or short forearm bones and differences in the anus and genitals.
Understanding Absent radius-anogenital anomalies syndrome
People have underdeveloped or absent radius bones on both sides, which causes absent or short forearms. They also have anus and genital differences, such as hypospadias or an anus that is not open. Hydrocephalus (extra fluid in the brain) and missing thumbs have been reported. GARD notes there have been no further descriptions in the medical literature since 1993. GARD lists onset as during pregnancy and as a newborn.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Underdeveloped radius (forearm bone)
- Cleft hand or missing fingers
- Anus not open (anal atresia)
- Hydrocephalus (extra fluid in the brain)
- Low amniotic fluid during pregnancy
- Abnormal connection between rectum and vagina
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 condition. It is listed as X-linked.
Also known as: radial aplasia and anogenital anomalies; radial aplasia, x-linked
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 Absent radius-anogenital anomalies syndrome.
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