Overview
X-linked intellectual disability-plagiocephaly syndrome is an extremely rare genetic condition that primarily affects males. It is sometimes referred to by its Orphanet designation (ORPHA:2898). This syndrome is characterized by intellectual disability combined with plagiocephaly, which means an asymmetrical or flattened shape of the skull. Because the condition is linked to the X chromosome, it mainly affects boys and men, while females who carry the gene change are usually unaffected or only mildly affected. The key features of this syndrome include moderate to severe intellectual disability, an abnormally shaped skull (plagiocephaly), and sometimes additional physical differences such as unusual facial features and developmental delays. Children with this condition typically show delays in reaching milestones like sitting, walking, and talking. The degree of intellectual disability can vary from person to person. There is currently no cure for this condition. Treatment focuses on managing symptoms and supporting development. This may include special education programs, speech therapy, physical therapy, and occupational therapy. Early intervention services can help children reach their fullest potential. Medical teams work together to address the skull shape abnormality and any other associated health concerns. Because this syndrome is so rare, much of the medical understanding comes from a very small number of reported families.
Also known as:
Key symptoms:
Intellectual disabilityAsymmetrical or flattened skull shape (plagiocephaly)Delayed speech and language developmentDelayed motor milestones such as sitting and walkingUnusual facial featuresLearning difficultiesBehavioral challengesPoor muscle tone in infancyShort stature in some casesDifficulty with fine motor skills
Clinical phenotype terms (14)— hover any for plain English
X-linked recessive
Carried on the X chromosome; typically affects males more than females
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for X-linked intellectual disability-plagiocephaly syndrome.
View clinical trials →Clinical Trials
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Specialists
View all specialists →No specialists are currently listed for X-linked intellectual disability-plagiocephaly 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-plagiocephaly 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 is the severity of my child's intellectual disability, and what level of support will they likely need?,Does my child's skull shape require any surgical intervention, or will it improve on its own?,What therapies (speech, physical, occupational) should we start, and how often?,Should we pursue genetic testing, and what type of test is most appropriate?,Are there any other health complications we should watch for as my child grows?,What educational resources and early intervention programs are available in our area?,If I am a carrier, what are the chances of having another affected child?
Common questions about X-linked intellectual disability-plagiocephaly syndrome
What is X-linked intellectual disability-plagiocephaly syndrome?
X-linked intellectual disability-plagiocephaly syndrome is an extremely rare genetic condition that primarily affects males. It is sometimes referred to by its Orphanet designation (ORPHA:2898). This syndrome is characterized by intellectual disability combined with plagiocephaly, which means an asymmetrical or flattened shape of the skull. Because the condition is linked to the X chromosome, it mainly affects boys and men, while females who carry the gene change are usually unaffected or only mildly affected. The key features of this syndrome include moderate to severe intellectual disabilit
How is X-linked intellectual disability-plagiocephaly syndrome inherited?
X-linked intellectual disability-plagiocephaly 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-plagiocephaly syndrome typically begin?
Typical onset of X-linked intellectual disability-plagiocephaly syndrome is neonatal. Age of onset can vary across affected individuals.