Overview
Paraplegia-intellectual disability-hyperkeratosis syndrome is an extremely rare genetic condition that affects the nervous system, brain development, and skin. The disease is sometimes referred to by its Orphanet designation (ORPHA:2824). People with this syndrome experience a combination of three main problems: paraplegia (weakness or paralysis of the legs due to spinal cord or nerve involvement), intellectual disability (difficulty with learning, reasoning, and daily problem-solving), and hyperkeratosis (thickening and hardening of the skin, especially on the palms of the hands and soles of the feet). The leg weakness typically makes walking very difficult or impossible, and affected individuals may need a wheelchair or other mobility aids. The intellectual disability can range from mild to severe and affects the ability to learn and function independently. The skin thickening can cause discomfort and may require ongoing skin care. Because this syndrome is so rare, there is very limited information about its full range of symptoms and natural history. There is currently no cure for this condition. Treatment focuses on managing each symptom individually, including physical therapy for mobility, special education support for learning difficulties, and dermatological care for the skin problems. A team of specialists is usually needed to provide comprehensive care.
Also known as:
Key symptoms:
Weakness or paralysis of the legs (paraplegia)Intellectual disability or learning difficultiesThickened, rough skin on palms and soles (hyperkeratosis)Difficulty walking or inability to walkMuscle stiffness or spasticity in the legsDelayed developmental milestonesSpeech and language delaysDifficulty with fine motor skillsSkin cracking or discomfort on hands and feetReduced sensation in the lower limbs
Clinical phenotype terms (21)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Paraplegia-intellectual disability-hyperkeratosis syndrome.
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Specialists
View all specialists →No specialists are currently listed for Paraplegia-intellectual disability-hyperkeratosis 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 Paraplegia-intellectual disability-hyperkeratosis 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 is the likely cause of my child's combination of symptoms, and can genetic testing help confirm the diagnosis?,What therapies are available to help with leg weakness and mobility?,How can we best manage the thickened skin on the hands and feet?,What educational supports should we put in place for intellectual disability?,Are there any clinical trials or research studies we could participate in?,What should we watch for that would require urgent medical attention?,Is genetic counseling recommended for our family regarding future pregnancies?
Common questions about Paraplegia-intellectual disability-hyperkeratosis syndrome
What is Paraplegia-intellectual disability-hyperkeratosis syndrome?
Paraplegia-intellectual disability-hyperkeratosis syndrome is an extremely rare genetic condition that affects the nervous system, brain development, and skin. The disease is sometimes referred to by its Orphanet designation (ORPHA:2824). People with this syndrome experience a combination of three main problems: paraplegia (weakness or paralysis of the legs due to spinal cord or nerve involvement), intellectual disability (difficulty with learning, reasoning, and daily problem-solving), and hyperkeratosis (thickening and hardening of the skin, especially on the palms of the hands and soles of
How is Paraplegia-intellectual disability-hyperkeratosis syndrome inherited?
Paraplegia-intellectual disability-hyperkeratosis syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Paraplegia-intellectual disability-hyperkeratosis syndrome typically begin?
Typical onset of Paraplegia-intellectual disability-hyperkeratosis syndrome is childhood. Age of onset can vary across affected individuals.