has material basis in germline mutation in B3GAT3 Larsen-like syndrome, B3GAT3 type https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/6751 https://www.malacards.org/card/larsen_like_syndrome_b3gat3_type_2 https://www.malacards.org/card/multiple_joint_dislocations_short_stature_and_craniofacial_dysmorphism_with_or_without_congenital_heart_defects MEDGEN:480034 MESH:C537874 multiple JOINT dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects Larsen syndrome, autosomal recessive Orphanet:284139 JDSCD DOID:0080575 multiple JOINT dislocations, short stature, craniofacial dysmorphism, and congenital heart defects Larsen syndrome, autosomal recessive, formerly multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects multiple Joint dislocations, short stature, and craniofacial Dysmorphism with or without congenital heart defects 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. UMLS:C3278404 multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome MONDO:0009511 OMIM:245600 GARD:0017308 congenital disorder of glycosylation developmental anomaly of metabolic origin skeletal dysplasia obsolete primary bone dysplasia with multiple joint dislocations cardiogenetic disease