Larsen-like syndrome B3GAT3 type

Term ID

DOID:0080575

Synonyms

• Larsen-like syndrome, B3GAT3 type
• multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome

Definition

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. (2)

References

• OMIM:245600
• ORDO:284139

Ontology

Human Disease   ( DOID:0080575 )