Larsen-like syndrome, B3GAT3 type
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.
MONDO:0019700
obsolete primary bone dysplasia with multiple joint dislocations (obsolete MONDO:0019700)
excluded_subClassOf
MONDO:0015286
congenital disorder of glycosylation
is_a
MONDO:0015327
developmental anomaly of metabolic origin
is_a
MONDO:0018230
skeletal dysplasia
is_a
MONDO:0100547
cardiogenetic disease
is_a
JDSCD
related
Larsen syndrome, autosomal recessive
related
multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects
exact
multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome
exact