Overview
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome is an extremely rare genetic condition that affects multiple body systems from birth. The name describes its three main features: ichthyosis (a skin condition where the skin becomes very dry, thick, and scaly), intellectual disability (difficulty with learning, reasoning, and daily problem-solving), and spastic quadriplegia (stiffness and difficulty moving all four limbs due to problems with the brain and nervous system). Babies born with this condition typically show signs of abnormal skin at birth or shortly after, along with significant developmental delays. The skin may appear red, tight, or covered in thick scales, which can cause discomfort and increase the risk of skin infections. The neurological problems are usually severe, with affected children showing very limited movement, difficulty feeding, and little or no speech development. Seizures may also occur in some individuals. Because this syndrome is so rare, there is no specific cure or targeted treatment available. Management focuses on supportive care, including skin moisturizers and treatments to manage the ichthyosis, physical therapy to address muscle stiffness, anti-seizure medications if needed, and specialized educational support. A team of different specialists is usually needed to provide the best possible care for affected individuals and their families.
Also known as:
Key symptoms:
Thick, dry, scaly skin present from birthRedness of the skinSevere intellectual disabilityStiffness in all four limbs (spastic quadriplegia)Delayed or absent speechDifficulty feedingSeizuresFailure to reach developmental milestonesPoor head controlDifficulty swallowingLimited voluntary movementGrowth delaysRecurrent skin infections
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-intellectual disability-spastic quadriplegia syndrome.
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Specialists
View all specialists →No specialists are currently listed for Congenital ichthyosis-intellectual disability-spastic quadriplegia 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-intellectual disability-spastic quadriplegia 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
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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 testing has been done, and are there results that confirm the diagnosis?,What therapies are recommended to manage my child's muscle stiffness and mobility?,What is the best daily skin care routine for my child's ichthyosis?,Are there any clinical trials or research studies that my child might be eligible for?,What should I do if my child has a seizure at home?,How can we best support my child's communication and development?,What resources are available for our family, including respite care and support groups?
Common questions about Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
What is Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome?
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome is an extremely rare genetic condition that affects multiple body systems from birth. The name describes its three main features: ichthyosis (a skin condition where the skin becomes very dry, thick, and scaly), intellectual disability (difficulty with learning, reasoning, and daily problem-solving), and spastic quadriplegia (stiffness and difficulty moving all four limbs due to problems with the brain and nervous system). Babies born with this condition typically show signs of abnormal skin at birth or shortly after,
How is Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome inherited?
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome typically begin?
Typical onset of Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome is neonatal. Age of onset can vary across affected individuals.