Living with X-linked intellectual disability, Stocco dos Santos type
A genetic condition present from birth with severe learning disability, delayed speech, hip and foot differences, and hyperactivity.
Understanding X-linked intellectual disability, Stocco dos Santos type
Some babies are born with a partly dislocated hip. People can have delayed speech, severe intellectual disability, a low nasal bridge, extra body hair, hyperactivity, a rounded upper back, and repeated respiratory infections. Females typically have milder symptoms, and some have none.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe intellectual disability
- Delayed speech and language
- Hip dislocation from birth
- Clubfoot
- Hyperactivity
- Repeated respiratory infections
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 SHROOM4 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, Stocco dos Santos type, is caused by changes in the SHROOM4 gene and is inherited in an X-linked way.
Also known as: intellectual developmental disorder, x-linked syndromic, stocco dos santos type; stocco dos santos 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, Stocco dos Santos type.
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