short stature-valvular heart disease-characteristic facies syndrome
Findings
No curated finding names short stature-valvular heart disease-characteristic facies syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Short stature-valvular heart disease-characteristic facies syndrome is characterized by severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and dysmorphism (ptosis, high-arched palate, abnormal dentition). It has been described in a mother and two daughters. This syndrome is probably transmitted as an autosomal dominant trait.
Definition from the Mondo Disease Ontology (MONDO:0007461), read 2026-09-29. CC BY 4.0.
Features
14 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 heart valve morphologyHPOHP:0001654
- Very frequent (80% to 99% of cases)
- Abnormality of the dentitionHPOHP:0000164
- Very frequent (80% to 99% of cases)
- Clinodactyly of the 5th fingerHPOHP:0004209
- Very frequent (80% to 99% of cases)
- Delayed skeletal maturationHPOHP:0002750
- Very frequent (80% to 99% of cases)
- Dental crowdingHPOHP:0000678
- Very frequent (80% to 99% of cases)
- Disproportionate short statureHPOHP:0003498
- Very frequent (80% to 99% of cases)
Show the remaining 2
- Small handHPOHP:0200055
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- Occasional (5% to 29% of cases)