Conditions / Syndrome
Larsen-like syndrome B3GAT3 type
info · Syndrome
A syndrome that is 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, up
A syndrome that is 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 and has_material_basis_in homozygous mutation in the B3GAT3 gene on chromosome 11q12.
Signs and symptoms
- Radioulnar synostosis
- Midface retrusion
- Long philtrum
- Motor delay
- Osteopenia
- Generalized hypotonia
- Multiple joint dislocation
- Short stature
- Blue sclerae
- Proptosis
Also known as: Larsen-like syndrome, B3GAT3 type; multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome