skeletal dysplasia-epilepsy-short stature syndrome
Findings
No curated finding names skeletal dysplasia-epilepsy-short stature syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Skeletal dysplasia-epilepsy-short stature syndrome is characterized by moderate to severe intellectual deficit, seizures, short stature, and skeletal dysplasia. It has been described in seven patients. Other manifestations can be associated (retinal abnormalities, brachydactyly, prognathism, dental malocclusion). It is transmitted as an autosomal recessive trait.
Definition from the Mondo Disease Ontology (MONDO:0011011), read 2026-09-29. CC BY 4.0.
Features
15 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.
- Abnormality of the dentitionHPOHP:0000164
- Very frequent (80% to 99% of cases)
- BrachydactylyHPOHP:0001156
- Very frequent (80% to 99% of cases)
- Dental malocclusionHPOHP:0000689
- Very frequent (80% to 99% of cases)
- EEG abnormalityHPOHP:0002353
- Very frequent (80% to 99% of cases)
- Hip dysplasiaHPOHP:0001385
- Very frequent (80% to 99% of cases)
- Hypoplastic iliac wingHPOHP:0002866
- Very frequent (80% to 99% of cases)
Show the remaining 3
- Short distal phalanx of fingerHPOHP:0009882
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Skeletal dysplasiaHPOHP:0002652
- Very frequent (80% to 99% of cases)
Where it sits
Other names
1 name
Resolves to: skeletal dysplasia-epilepsy-short stature syndrome
- Also called
- Gurrieri-Sammito-Bellussi syndrome