Living with X-linked intellectual disability-short stature-overweight syndrome
A rare X-linked condition with learning difficulty, speech delay, short stature, and weight gain.
Understanding X-linked intellectual disability-short stature-overweight syndrome
Truncal obesity has been reported in older males. Nervous system features vary and can include low muscle tone, tremors, trouble walking, behavior problems, and seizures. Less common features are a small head and small genitals. It can begin at a variety of ages.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Mild to moderate intellectual disability
- Delayed speech and language
- Short stature
- Overweight
- Low muscle tone (hypotonia)
- Tremor
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 THOC2 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 THOC2 gene and follows X-linked inheritance.
Also known as: intellectual developmental disorder, x-linked 12; intellectual developmental disorder, x-linked 12, x-linked recessive; intellectual developmental disorder, x-linked, syndromic, kumar type; intellectual disability, x-linked type 12; mrxsk
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-short stature-overweight syndrome.
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