intellectual disability-myopathy-short stature-endocrine defect syndrome
Findings
No curated finding names intellectual disability-myopathy-short stature-endocrine defect syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Intellectual disability-myopathy-short stature-endocrine defect syndrome is a rare congenital myopathy syndrome characterized by nonprogressive myopathy (manifesting with mild facial and generalized weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism). The presence of a small pituitary fossa was also noted. There have been no further descriptions in the literature since 1985.
Definition from the Mondo Disease Ontology (MONDO:0009671), read 2026-09-29. CC BY 4.0.
Features
30 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal muscle fiber morphologyHPOHP:0004303
- Very frequent (80% to 99% of cases)
- Abnormal palate morphologyHPOHP:0000174
- Very frequent (80% to 99% of cases)
- Clinodactyly of the 5th fingerHPOHP:0004209
- Very frequent (80% to 99% of cases)
- Craniofacial hyperostosisHPOHP:0004493
- Very frequent (80% to 99% of cases)
- Delayed skeletal maturationHPOHP:0002750
- Very frequent (80% to 99% of cases)
- Disproportionate tall statureHPOHP:0001519
- Very frequent (80% to 99% of cases)
Show the remaining 18
- MyopiaHPOHP:0000545
- Very frequent (80% to 99% of cases)
- OphthalmoparesisHPOHP:0000597
- Very frequent (80% to 99% of cases)
- PtosisHPOHP:0000508
- Very frequent (80% to 99% of cases)
- Severe intellectual disabilityHPOHP:0010864
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Skeletal muscle atrophyHPOHP:0003202
- Very frequent (80% to 99% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: intellectual disability-myopathy-short stature-endocrine defect syndrome
- Also called
- Chudley-Rozdilsky syndrome