Overview
X-linked intellectual disability, Shrimpton type, is an extremely rare genetic condition that primarily affects males. It is caused by a change (mutation) in a gene located on the X chromosome, which is one of the two sex chromosomes. Because males have only one X chromosome, a single altered copy of the gene is enough to cause the condition. The main feature of this condition is intellectual disability, which can range from mild to moderate. Affected individuals may have delays in learning, speech, and language development. Some people with this condition may also have distinctive facial features or other physical findings, though the specific features can vary from person to person. Behavioral challenges, such as difficulty with attention or social interactions, may also be present. Because this condition is so rare, there is limited information about the full range of symptoms and the best approaches to treatment. Currently, there is no cure. Management focuses on supportive care, including special education services, speech therapy, occupational therapy, and behavioral support. Early intervention programs can help affected children reach their full potential. Families are encouraged to work closely with a team of specialists to create an individualized care plan.
Also known as:
Key symptoms:
Intellectual disabilityDelayed speech and language developmentLearning difficultiesDelayed motor milestonesBehavioral challengesDifficulty with social interactionsAttention problemsPossible distinctive facial features
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, Shrimpton type.
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Specialists
View all specialists →No specialists are currently listed for X-linked intellectual disability, Shrimpton type.
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, Shrimpton type.
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 specific genetic testing should be done to confirm this diagnosis?,What therapies and early intervention services do you recommend for my child?,How severe is the intellectual disability likely to be, and what can we expect over time?,Are there any other medical issues we should screen for?,What educational supports should we request at school?,Should other family members be tested, especially female relatives who may be carriers?,Are there any clinical trials or research studies we could participate in?
Common questions about X-linked intellectual disability, Shrimpton type
What is X-linked intellectual disability, Shrimpton type?
X-linked intellectual disability, Shrimpton type, is an extremely rare genetic condition that primarily affects males. It is caused by a change (mutation) in a gene located on the X chromosome, which is one of the two sex chromosomes. Because males have only one X chromosome, a single altered copy of the gene is enough to cause the condition. The main feature of this condition is intellectual disability, which can range from mild to moderate. Affected individuals may have delays in learning, speech, and language development. Some people with this condition may also have distinctive facial fea
How is X-linked intellectual disability, Shrimpton type inherited?
X-linked intellectual disability, Shrimpton type 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, Shrimpton type typically begin?
Typical onset of X-linked intellectual disability, Shrimpton type is childhood. Age of onset can vary across affected individuals.