/Larsen-like syndrome, B3GAT3 type

Larsen-like syndrome, B3GAT3 type

Rare Disease

MONDO:0009511

Also Known As

multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defectsmultiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndromeJDSCDLarsen syndrome, autosomal recessiveLarsen syndrome, autosomal recessive, formerlymultiple JOINT dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defectsmultiple JOINT dislocations, short stature, craniofacial dysmorphism, and congenital heart defectsmultiple Joint dislocations, short stature, and craniofacial Dysmorphism with or without congenital heart defects

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.