Overview
Aniridia-renal agenesis-psychomotor retardation syndrome is an extremely rare genetic condition that affects multiple parts of the body. The name describes its three main features: aniridia (the colored part of the eye, called the iris, is missing or underdeveloped), renal agenesis (one or both kidneys fail to develop), and psychomotor retardation (delays in both mental and physical development). This condition is sometimes referred to as a contiguous gene deletion syndrome involving the PAX6 and WT1 genes on chromosome 11. Children born with this syndrome typically have significant vision problems due to the absence of the iris, which can also lead to sensitivity to light, glaucoma, and other eye complications. The kidney problems can range from having one missing kidney to both kidneys being absent or severely underdeveloped, which can be life-threatening. Developmental delays affect how children learn to sit, walk, talk, and think. Because this syndrome affects so many body systems, treatment requires a team of specialists working together. There is currently no cure, so treatment focuses on managing each symptom individually. This may include eye surgeries or aids for vision, dialysis or kidney transplant for kidney failure, and early intervention therapies such as physical therapy, occupational therapy, and speech therapy to support development. Some affected children may also be at increased risk for Wilms tumor, a type of kidney cancer, due to involvement of the WT1 gene, so regular screening is important.
Also known as:
Key symptoms:
Missing or underdeveloped iris (colored part of the eye)Sensitivity to bright lightVision problems or poor eyesightOne or both kidneys missing or underdevelopedDelayed motor milestones like sitting and walkingIntellectual disability or learning difficultiesSpeech and language delaysGlaucoma (increased eye pressure)Cataracts or clouding of the eye lensAbnormalities of the urinary tractIncreased risk of Wilms tumor (kidney cancer in children)Low muscle toneGenital or reproductive organ abnormalities
Clinical phenotype terms (16)— hover any for plain English
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Aniridia-renal agenesis-psychomotor retardation syndrome.
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Specialists
View all specialists →No specialists are currently listed for Aniridia-renal agenesis-psychomotor retardation syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Aniridia-renal agenesis-psychomotor retardation syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.How much kidney function does my child have, and what is the long-term outlook for their kidneys?,How often should we screen for Wilms tumor, and what signs should I watch for?,What eye treatments or surgeries might be needed, and when?,What early intervention therapies do you recommend, and how often?,Are there any dietary restrictions we should follow because of the kidney problems?,Should other family members be tested for this genetic deletion?,Are there any clinical trials or new treatments being studied for this condition?
Common questions about Aniridia-renal agenesis-psychomotor retardation syndrome
What is Aniridia-renal agenesis-psychomotor retardation syndrome?
Aniridia-renal agenesis-psychomotor retardation syndrome is an extremely rare genetic condition that affects multiple parts of the body. The name describes its three main features: aniridia (the colored part of the eye, called the iris, is missing or underdeveloped), renal agenesis (one or both kidneys fail to develop), and psychomotor retardation (delays in both mental and physical development). This condition is sometimes referred to as a contiguous gene deletion syndrome involving the PAX6 and WT1 genes on chromosome 11. Children born with this syndrome typically have significant vision pr
At what age does Aniridia-renal agenesis-psychomotor retardation syndrome typically begin?
Typical onset of Aniridia-renal agenesis-psychomotor retardation syndrome is neonatal. Age of onset can vary across affected individuals.