Living with Intellectual disability-myopathy-short stature-endocrine defect syndrome
A very rare syndrome present from birth with muscle weakness that doesn't worsen, severe intellectual disability, and short stature.
Understanding Intellectual disability-myopathy-short stature-endocrine defect syndrome
Features include mild face and body weakness, droopy eyelids, severe curve of the lower spine, severe intellectual disability, short stature, and delayed puberty from low pituitary hormones. GARD notes there have been no further descriptions in the medical literature since 1985.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Mild muscle weakness
- Severe intellectual disability
- Short stature
- Small head (microcephaly)
- Facial weakness
- Nearsightedness
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
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
GARD doesn't describe a cause for this condition yet.
Also known as: chudley rozdilsky syndrome; chudley syndrome; chudley-rozdilsky syndrome; intellectual disability, myopathy, short stature, endocrine defect 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 Intellectual disability-myopathy-short stature-endocrine defect syndrome.
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