intellectual disability-spasticity-ectrodactyly syndrome
Findings
No curated finding names intellectual disability-spasticity-ectrodactyly syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Intellectual disability-spasticity-ectrodactyly syndrome is a rare intellectual disability syndrome characterized by severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet).
Definition from the Mondo Disease Ontology (MONDO:0009524), read 2026-09-29. CC BY 4.0.
Features
9 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.
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- SpasticityHPOHP:0001257
- Very frequent (80% to 99% of cases)
- Abnormal hip bone morphologyHPOHP:0003272
- Frequent (30% to 79% of cases)
- Abnormality of the upper limbHPOHP:0002817
- Frequent (30% to 79% of cases)
- Bilateral single transverse palmar creasesHPOHP:0007598
- Frequent (30% to 79% of cases)
- Clinodactyly of the 5th fingerHPOHP:0004209
- Frequent (30% to 79% of cases)
Where it sits
Other names
1 name
Resolves to: intellectual disability-spasticity-ectrodactyly syndrome
- Also called
- Jancar syndrome