Living with Aniridia-renal agenesis-psychomotor retardation syndrome
An extremely rare syndrome described in two siblings, with a partly missing iris, a missing kidney, and mild developmental delay.
Understanding Aniridia-renal agenesis-psychomotor retardation syndrome
It combines eye differences (a partly missing iris, glaucoma from birth, widely spaced inner eye corners) with a prominent forehead, wide-set eyes, one missing kidney, and mild developmental delay. GARD says there have been no further descriptions in the literature since 1974. It starts in newborns.
Signs & symptoms
Symptoms vary. GARD lists these among the most common:
- Missing iris (aniridia)
- One kidney missing (unilateral renal agenesis)
- Cloudy cornea
- Widely separated inner eye corners (telecanthus)
- Early closing of skull bones (craniosynostosis)
- Crossed eyes (strabismus)
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 brain and nervous system specialists, eye disease specialists, genetic specialists and kidney specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Kidney specialists (nephrologists)
- 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 National Kidney Foundation and other patient organizations
- 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 lists autosomal recessive inheritance, so a child inherits a changed copy of a gene from each parent. It doesn't name a gene.
Also known as: aniridia partial with unilateral renal agenesis and psychomotor retardation; sommer-rathbun-battles syndrome
Patient organizations
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Aniridia-renal agenesis-psychomotor retardation syndrome.
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