Larsen-like osseous dysplasia-short stature syndrome
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.
MONDO:0019700
obsolete primary bone dysplasia with multiple joint dislocations (obsolete MONDO:0019700)
excluded_subClassOf
MONDO:0018230
skeletal dysplasia
is_a
Larsen-like syndrome, isolated cases
exact