/Larsen-like osseous dysplasia-short stature syndrome

Larsen-like osseous dysplasia-short stature syndrome

Rare Disease

MONDO:0012055

Also Known As

Larsen-like syndrome, isolated casesLarsen-like syndromeLrsl

Definition

Larsen-like osseous dysplasia-short stature syndrome is a rare primary bone dysplasia characterized by a Larsen-like phenotype including multiple, congenital, large joint dislocations, craniofacial abnormalities (i.e. macrocephaly, flat occiput, prominent forehead, hypertelorism, low-set, malformed ears, flat nose, cleft palate), spinal abnormalities, cylindrical fingers, and talipes equinovarus, as well as growth retardation (resulting in short stature) and delayed bone age. Other reported clinical manifestations include severe developmental delay, hypotonia, clinodactyly, congenital heart defect and renal dysplasia.