Overview
Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome is a very rare inherited condition that affects multiple parts of the body at the same time. The name describes its three main features: ichthyosis (dry, scaly, thickened skin), hepatosplenomegaly (an enlarged liver and spleen), and cerebellar degeneration (progressive damage to the part of the brain that controls balance and coordination). This condition is sometimes referred to by its Orphanet code ORPHA:2274 and falls under the broader category of complex multi-system rare syndromes. People with this syndrome typically develop noticeable skin changes early in life, along with signs of liver and spleen enlargement that may be detected on physical exam or imaging. Over time, damage to the cerebellum leads to problems with walking, balance, and coordinated movements. Neurological decline tends to be progressive, meaning symptoms worsen gradually over the years. There is currently no cure for this condition. Treatment focuses on managing individual symptoms — for example, moisturizing creams and keratolytic agents to soften the skin, monitoring and supporting liver function, and physical or occupational therapy to help maintain mobility and independence for as long as possible. Because this syndrome is so rare, most care is guided by specialists experienced in rare genetic diseases, and treatment plans are highly individualized.
Also known as:
Key symptoms:
Dry, scaly, thickened skin (ichthyosis) covering large areas of the bodyEnlarged liver (hepatomegaly)Enlarged spleen (splenomegaly)Progressive loss of balance and coordinationUnsteady walking (ataxia)Slurred or slow speechTremors or shaking movementsMuscle weaknessDifficulty with fine motor tasks like writing or buttoning clothesPossible intellectual decline over time
Clinical phenotype terms (8)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome.
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Specialists
View all specialists →No specialists are currently listed for Ichthyosis-hepatosplenomegaly-cerebellar degeneration 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-hepatosplenomegaly-cerebellar degeneration 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 gene involved?,How quickly do you expect the neurological symptoms to progress, and what signs should we watch for?,What is the best skin care routine for managing the ichthyosis, and are there prescription treatments that might help?,How often should we monitor the liver and spleen, and what complications should we be prepared for?,Are there any clinical trials or research studies we could participate in?,What therapies — physical, occupational, or speech — do you recommend starting now?,Should other family members be tested, and what are the chances of this occurring in future pregnancies?
Common questions about Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome
What is Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome?
Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome is a very rare inherited condition that affects multiple parts of the body at the same time. The name describes its three main features: ichthyosis (dry, scaly, thickened skin), hepatosplenomegaly (an enlarged liver and spleen), and cerebellar degeneration (progressive damage to the part of the brain that controls balance and coordination). This condition is sometimes referred to by its Orphanet code ORPHA:2274 and falls under the broader category of complex multi-system rare syndromes. People with this syndrome typically develop
How is Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome inherited?
Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome typically begin?
Typical onset of Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome is infantile. Age of onset can vary across affected individuals.