Living with X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
A rare X-linked condition with developmental delay, poor coordination, bone differences, and a small cerebellum.
Understanding X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
It also includes spondyloepiphyseal dysplasia (bone growth differences in the spine and joints) and facial features such as a small head and prominent ears. Epilepsy, retinitis pigmentosa (an eye condition), and urinary and genital differences have been reported. Brain scans may show a small cerebellum.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Global developmental delay
- Severe intellectual disability
- Poor coordination (ataxia)
- Low muscle tone in infancy
- Seizures
- Small cerebellum
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 bone and joint specialists, brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in RPL10 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
- Bone and joint specialists (orthopedists or orthopedic surgeons); 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
This condition is caused by changes in the RPL10 gene and follows X-linked inheritance.
Also known as: x-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
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-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome.
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