Living with X-linked intellectual disability Cabezas type
A rare X-linked condition affecting development and growth, with severe speech difficulty, short stature, and distinct features.
Understanding X-linked intellectual disability Cabezas type
People may reach milestones late, have intellectual disability with severe speech problems, and be shorter than average. Other symptoms can include behavior changes, trouble walking, tremors, seizures, hormone imbalances, obesity, small hands and feet, and unique facial features. It usually shows in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe speech difficulty
- Intellectual disability
- Short stature
- Hyperactivity or aggressive behavior
- Small testes
- Tremors and seizures
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in CUL4B are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
X-linked intellectual disability, Cabezas type, is caused by changes in the CUL4B gene, passed down on the X chromosome.
Also known as: cabezas syndrome; cabezas syndrome; syndromic x-linked intellectual disability 15; intellectual developmental disorder, x-linked syndromic, cabezas type; intellectual disability, x-linked, syndromic 15 (cabezas type); intellectual disability, x-linked, with short stature
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with X-linked intellectual disability Cabezas type.
Explore research for X-linked intellectual disability Cabezas type
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- Eligibility is confirmed by the study team
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