Overview
X-linked skeletal dysplasia-intellectual disability syndrome (also known as X-linked skeletal dysplasia with intellectual disability, or sometimes referred to by its Orphanet designation ORPHA:1436) is an extremely rare genetic condition that primarily affects males. It is caused by a change in a gene located on the X chromosome, which means it follows an X-linked pattern of inheritance. The syndrome involves a combination of skeletal abnormalities (dysplasia) and intellectual disability. Affected individuals typically show problems with bone development, which can lead to short stature, unusual bone shapes, and other skeletal differences that may be visible on X-rays. Intellectual disability can range from mild to moderate, affecting learning, speech, and daily functioning. Because this condition is so rare, there is limited published medical literature about it. Skeletal features may include abnormalities of the spine, limbs, or skull. Some individuals may also have distinctive facial features. The condition is usually recognized in infancy or early childhood when developmental delays and skeletal differences become apparent. There is currently no cure for this syndrome. Treatment is supportive and focuses on managing symptoms. This may include physical therapy, occupational therapy, speech therapy, special education services, and orthopedic care for bone-related problems. A team of specialists typically works together to address the various needs of affected individuals. Early intervention programs can help maximize developmental potential and quality of life.
Also known as:
Key symptoms:
Intellectual disabilityShort statureAbnormal bone developmentDelayed speech and languageDelayed motor milestonesUnusual facial featuresSpine abnormalitiesLimb abnormalitiesLearning difficultiesReduced muscle tone in infancy
Clinical phenotype terms (9)— hover any for plain English
X-linked recessive
Carried on the X chromosome; typically affects males more than females
Infantile
Begins in infancy, roughly 1 month to 2 years old
FDA & Trial Timeline
1 eventIndiana University — PHASE1
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for X-linked skeletal dysplasia-intellectual disability syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for X-linked skeletal dysplasia-intellectual disability syndrome at this time.
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Rare Disease Specialist
Rare Disease Specialist
Treatment Centers
8 centersStanford University
📍 Palo Alto, California
👤 Richard Neibeger, MD
University of Pittsburgh Medical Center
📍 Pittsburgh, Pennsylvania
Mayo Clinic
📍 Jacksonville, Florida
Indiana University
📍 Indianapolis, Indiana
Baylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to X-linked skeletal dysplasia-intellectual disability syndrome.
Community
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Start the conversation →Latest news about X-linked skeletal dysplasia-intellectual disability syndrome
Disease timeline:
New trial: STTEPP: Safety, Tolerability and Dose Limiting Toxicity of Lacosamide in Patients With Painful Chron
Phase PHASE1 trial recruiting. Lacosamide
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 specific genetic testing should be done to confirm the diagnosis?,How severe are the skeletal abnormalities, and will my child need surgery?,What therapies should we start right away to support development?,How often should we schedule follow-up visits with each specialist?,Are there any clinical trials or research studies we could participate in?,What is the expected long-term outlook for my child's mobility and learning?,Should female family members be tested to see if they are carriers?
Common questions about X-linked skeletal dysplasia-intellectual disability syndrome
What is X-linked skeletal dysplasia-intellectual disability syndrome?
X-linked skeletal dysplasia-intellectual disability syndrome (also known as X-linked skeletal dysplasia with intellectual disability, or sometimes referred to by its Orphanet designation ORPHA:1436) is an extremely rare genetic condition that primarily affects males. It is caused by a change in a gene located on the X chromosome, which means it follows an X-linked pattern of inheritance. The syndrome involves a combination of skeletal abnormalities (dysplasia) and intellectual disability. Affected individuals typically show problems with bone development, which can lead to short stature, unusu
How is X-linked skeletal dysplasia-intellectual disability syndrome inherited?
X-linked skeletal dysplasia-intellectual disability 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 skeletal dysplasia-intellectual disability syndrome typically begin?
Typical onset of X-linked skeletal dysplasia-intellectual disability syndrome is infantile. Age of onset can vary across affected individuals.
Which specialists treat X-linked skeletal dysplasia-intellectual disability syndrome?
3 specialists and care centers treating X-linked skeletal dysplasia-intellectual disability syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.