Overview
Congenital ichthyosis-microcephalus-tetraplegia syndrome is an extremely rare condition that affects the skin, brain, and movement from birth. The name describes its three main features: 'congenital ichthyosis' means the skin is thick, dry, and scaly at birth; 'microcephalus' means the head is smaller than normal because the brain did not fully develop; and 'tetraplegia' means all four limbs are paralyzed or severely weakened. This condition is sometimes referred to by its Orphanet code ORPHA:2271. Because it is so rare, only a very small number of cases have ever been reported in medical literature. The syndrome affects multiple body systems at once. The skin problems can cause discomfort, increase the risk of infection, and require daily care. The small head size reflects reduced brain development, which typically leads to intellectual disability and developmental delays. The paralysis of all four limbs means most affected individuals need full-time support for daily activities like eating, bathing, and moving around. There is currently no cure for this condition. Treatment focuses on managing symptoms — keeping the skin moisturized and protected, preventing complications from immobility such as pressure sores and respiratory infections, and providing supportive therapies like physical therapy and occupational therapy. A team of specialists is usually needed to address the many different aspects of this complex condition.
Key symptoms:
Thick, dry, scaly skin present from birth (ichthyosis)Abnormally small head size (microcephaly)Paralysis or severe weakness in all four limbs (tetraplegia)Intellectual disabilityDelayed or absent developmental milestonesStiff or spastic musclesDifficulty swallowing or feedingIncreased risk of skin infections due to skin barrier problemsBreathing difficulties related to muscle weakness
Clinical phenotype terms (8)— 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 Congenital ichthyosis-microcephalus-tetraplegia syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Congenital ichthyosis-microcephalus-tetraplegia syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Congenital ichthyosis-microcephalus-tetraplegia 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 Congenital ichthyosis-microcephalus-tetraplegia syndrome.
Community
No community posts yet. Be the first to share your experience with Congenital ichthyosis-microcephalus-tetraplegia syndrome.
Start the conversation →Latest news about Congenital ichthyosis-microcephalus-tetraplegia syndrome
No recent news articles for Congenital ichthyosis-microcephalus-tetraplegia syndrome.
Follow this condition to be notified when news becomes available.
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 find the cause of this condition in our child?,What specialists should be part of our care team, and how often should we see each one?,What is the best daily skin care routine for our child's ichthyosis?,How can we reduce the risk of respiratory infections and other serious complications?,Are there any clinical trials or research studies we should know about?,What support services and therapies are available to help our child develop as much as possible?,What should we watch for at home that would mean we need to go to the emergency room?
Common questions about Congenital ichthyosis-microcephalus-tetraplegia syndrome
What is Congenital ichthyosis-microcephalus-tetraplegia syndrome?
Congenital ichthyosis-microcephalus-tetraplegia syndrome is an extremely rare condition that affects the skin, brain, and movement from birth. The name describes its three main features: 'congenital ichthyosis' means the skin is thick, dry, and scaly at birth; 'microcephalus' means the head is smaller than normal because the brain did not fully develop; and 'tetraplegia' means all four limbs are paralyzed or severely weakened. This condition is sometimes referred to by its Orphanet code ORPHA:2271. Because it is so rare, only a very small number of cases have ever been reported in medical lite
How is Congenital ichthyosis-microcephalus-tetraplegia syndrome inherited?
Congenital ichthyosis-microcephalus-tetraplegia syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Congenital ichthyosis-microcephalus-tetraplegia syndrome typically begin?
Typical onset of Congenital ichthyosis-microcephalus-tetraplegia syndrome is neonatal. Age of onset can vary across affected individuals.