Larsen-like syndrome, B3GAT3 type
Findings
No curated finding names Larsen-like syndrome, B3GAT3 type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.
Definition from the Mondo Disease Ontology (MONDO:0009511), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
33 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.
- Long philtrumHPOHP:0000343
- 4 of 4 reported patients
- Midface retrusionHPOHP:0011800
- 19 of 19 reported patients
- Motor delayHPOHP:0001270
- 5 of 5 reported patients
- Radioulnar synostosisHPOHP:0002974
- 10 of 10 reported patients
- OsteopeniaHPOHP:0000938
- 11 of 12 reported patients · Childhood onset
- Generalized hypotoniaHPOHP:0001290
Genes
1 gene
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.
- B3GAT3HGNC:923
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · G2P · Autosomal recessive · 2026
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: Larsen-like syndrome, B3GAT3 type
- Also called
- multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndromemultiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects