Overview
Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome is a very rare condition that affects multiple parts of the body at the same time. It is sometimes called IIDR syndrome. The condition causes dry, scaly skin (called ichthyosis), intellectual disability, short stature (dwarfism), and problems with how the kidneys work. These features are all present together, which is what makes this syndrome unique. The scaly skin can cover large areas of the body and may be present from birth or appear in early childhood. Intellectual disability means that learning, communication, and daily tasks may be harder than usual, though the degree can vary from person to person. Short stature means that affected individuals grow more slowly and end up shorter than most people their age. Kidney problems can range from mild to more serious and need regular monitoring to prevent complications. Because this syndrome is so rare, treatment focuses on managing each symptom separately rather than treating the root cause. Skin care routines, educational support, growth monitoring, and kidney function checks are all important parts of ongoing care. There is currently no cure, but a team of specialists can help improve quality of life significantly.
Also known as:
Key symptoms:
Dry, thick, scaly skin covering parts or most of the body (ichthyosis)Intellectual disability or learning difficultiesShort stature or slow growth (dwarfism)Reduced kidney function (renal impairment)Delayed developmental milestones such as walking or talkingSkin that may crack or become inflamedPossible hearing difficultiesPossible eye abnormalities
Clinical phenotype terms (9)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome.
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Specialists
View all specialists →No specialists are currently listed for Ichthyosis-intellectual disability-dwarfism-renal impairment 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 Ichthyosis-intellectual disability-dwarfism-renal impairment 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.What genetic tests should we do to confirm the diagnosis and identify the specific gene involved?,How often should kidney function be monitored, and what signs should prompt us to seek urgent care?,What is the best skin care routine for my child, and are there prescription treatments that might help?,Should we see an endocrinologist about growth, and is growth hormone therapy an option?,What early intervention or therapy programs do you recommend to support development and learning?,Are there any clinical trials or research studies we should know about for this condition?,What is the long-term outlook for kidney function, and at what point would dialysis or transplant be considered?
Common questions about Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome
What is Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome?
Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome is a very rare condition that affects multiple parts of the body at the same time. It is sometimes called IIDR syndrome. The condition causes dry, scaly skin (called ichthyosis), intellectual disability, short stature (dwarfism), and problems with how the kidneys work. These features are all present together, which is what makes this syndrome unique. The scaly skin can cover large areas of the body and may be present from birth or appear in early childhood. Intellectual disability means that learning, communication, and dai
How is Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome inherited?
Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome typically begin?
Typical onset of Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome is neonatal. Age of onset can vary across affected individuals.