Overview
X-linked intellectual disability-seizures-psoriasis syndrome is an extremely rare genetic condition that primarily affects males. It is sometimes referred to by its Orphanet designation (ORPHA:3052) and is characterized by a combination of intellectual disability, seizures (epilepsy), and a skin condition called psoriasis. Because the gene responsible is located on the X chromosome, boys and men are more severely affected, while females who carry the gene change may show milder symptoms or none at all. The intellectual disability in this condition can range from mild to severe and is usually noticed in early childhood when developmental milestones such as speech and learning are delayed. Seizures may begin in infancy or childhood and can vary in type and severity. Psoriasis, a chronic inflammatory skin condition causing red, scaly patches, typically appears during childhood as well. Some affected individuals may also have other features, though the core triad of intellectual disability, seizures, and psoriasis defines the syndrome. Because this syndrome is so rare, there is no specific cure. Treatment focuses on managing each symptom individually. Anti-seizure medications are used to control epilepsy, educational support and therapies help with intellectual disability, and dermatological treatments address psoriasis. A team of specialists working together provides the best care for affected individuals.
Also known as:
Key symptoms:
Intellectual disabilitySeizures or epilepsyPsoriasis (red, scaly skin patches)Delayed speech and language developmentLearning difficultiesBehavioral challengesDelayed motor milestonesDifficulty with daily living skills
Clinical phenotype terms (5)— hover any for plain English
X-linked recessive
Carried on the X chromosome; typically affects males more than females
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for X-linked intellectual disability-seizures-psoriasis syndrome.
View clinical trials →Clinical Trials
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Specialists
View all specialists →No specialists are currently listed for X-linked intellectual disability-seizures-psoriasis 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 X-linked intellectual disability-seizures-psoriasis 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 type of seizures does my child have, and what is the best medication to control them?,Are there genetic tests that can confirm this diagnosis or identify the specific gene involved?,What early intervention therapies would benefit my child's development the most?,How should we manage the psoriasis, and when should we see a dermatologist?,What should I do if my child has a prolonged seizure?,Are there any clinical trials or research studies we could participate in?,What is the long-term outlook for my child's learning and independence?
Common questions about X-linked intellectual disability-seizures-psoriasis syndrome
What is X-linked intellectual disability-seizures-psoriasis syndrome?
X-linked intellectual disability-seizures-psoriasis syndrome is an extremely rare genetic condition that primarily affects males. It is sometimes referred to by its Orphanet designation (ORPHA:3052) and is characterized by a combination of intellectual disability, seizures (epilepsy), and a skin condition called psoriasis. Because the gene responsible is located on the X chromosome, boys and men are more severely affected, while females who carry the gene change may show milder symptoms or none at all. The intellectual disability in this condition can range from mild to severe and is usually
How is X-linked intellectual disability-seizures-psoriasis syndrome inherited?
X-linked intellectual disability-seizures-psoriasis syndrome follows a x-linked recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does X-linked intellectual disability-seizures-psoriasis syndrome typically begin?
Typical onset of X-linked intellectual disability-seizures-psoriasis syndrome is childhood. Age of onset can vary across affected individuals.