dysmorphism-pectus carinatum-joint laxity syndrome
Findings
No curated finding names dysmorphism-pectus carinatum-joint laxity syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Dysmorphism-pectus carinatum-joint laxity syndrome is characterized by joint laxity, pectus carinatum and facial dysmorphism (mild frontal bossing, a beaked nose with a low nasal bridge, malar hypoplasia, chubby cheeks, a striking philtrum and arched upper lips). It has been described in two siblings. The mode of transmission is unknown.
Definition from the Mondo Disease Ontology (MONDO:0016219), read 2026-09-29. CC BY 4.0.
Features
11 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.
- Convex nasal ridgeHPOHP:0000444
- Very frequent (80% to 99% of cases)
- Deep philtrumHPOHP:0002002
- Very frequent (80% to 99% of cases)
- Depressed nasal ridgeHPOHP:0000457
- Very frequent (80% to 99% of cases)
- Frontal bossingHPOHP:0002007
- Very frequent (80% to 99% of cases)
- Full cheeksHPOHP:0000293
- Very frequent (80% to 99% of cases)
- Genu valgumHPOHP:0002857
- Very frequent (80% to 99% of cases)
- Joint hypermobility
Where it sits
Other names
1 name
Resolves to: dysmorphism-pectus carinatum-joint laxity syndrome
- Also called
- Guízar Vázquez-Sánchez-Manzano syndrome