Living with Syndromic X-linked intellectual disability Snyder type
An X-linked condition (Snyder-Robinson syndrome), only in males, with intellectual disability, thin bones, and low muscle mass.
Understanding Syndromic X-linked intellectual disability Snyder type
Intellectual disability ranges from mild to profound, and speech develops late or not at all. Most are thin with low muscle mass, floppy muscle tone from infancy, and an unsteady walk. Thin, brittle bones start in early childhood and break easily. Most develop a curved spine, and heights are shorter than family members. Facial features include a prominent lower lip, a cleft palate, and facial asymmetry.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability and late or no speech
- Low muscle mass and low muscle tone
- Unsteady walk
- Thin, brittle bones (osteoporosis)
- Curved spine (kyphoscoliosis)
- Cleft palate or high narrow palate
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 SMS 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 The Snyder-Robinson Foundation
- 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
Changes in the SMS gene cause this condition. It is X-linked, meaning the gene is on the X chromosome.
Also known as: intellectual developmental disorder, x-linked syndromic, snyder-robinson type, x-linked recessive; intellectual developmental disorder, x-linked, syndromic, snyder-robinson type; intellectual disability, x-linked, snyder-robinson type; snyder-robinson intellectual disability syndrome; snyder-robinson syndrome; snyder-robinson x-linked mental retardation syndrome
Patient organizations
- The Snyder-Robinson FoundationSyndromic X-linked intellectual disability Snyder type · United States
You are more than your diagnosis
Perspectives from people navigating life with Syndromic X-linked intellectual disability Snyder type.
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