Larsen syndrome
Findings
No curated finding names Larsen syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate.
Definition from the Mondo Disease Ontology (MONDO:0007875), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
37 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.
- Midface retrusionHPOHP:0011800
- 19 of 20 reported patients
- Spatulate thumbsHPOHP:0001222
- 17 of 18 reported patients
- BrachydactylyHPOHP:0001156
- Very frequent (80% to 99% of cases)
- Broad distal phalanx of fingerHPOHP:0009836
- Very frequent (80% to 99% of cases)
- Broad thumbHPOHP:0011304
- Very frequent (80% to 99% of cases)
- Depressed nasal bridgeHPOHP:0005280
- Very frequent (80% to 99% of cases)
- Flat face
Show the remaining 25
- Malar flatteningHPOHP:0000272
- Very frequent (80% to 99% of cases)
- Prominent foreheadHPOHP:0011220
- Very frequent (80% to 99% of cases)
- Short distal phalanx of fingerHPOHP:0009882
- Very frequent (80% to 99% of cases)
- Short nailHPOHP:0001799
- Very frequent (80% to 99% of cases)
- Talipes equinovarusHPOHP:0001762
- 15 of 20 reported patients
- Short statureHPOHP:0004322
- 14 of 20 reported patients
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.