Larsen-like osseous dysplasia-short stature syndrome

Larsen-like osseous dysplasia-short stature syndrome is a rare bone condition that affects the development of bones and joints. People with this condition may have multiple joint dislocations that are present from birth, as well as distinct facial features such as a large head, a flat back of the head, a prominent forehead, wide-set eyes, low-set or misshapen ears, a flat nose, and sometimes a cleft palate. In addition to joint and facial features, individuals can have spinal abnormalities, cylindrical fingers, and clubfoot. They also experience growth retardation leading to short stature and delayed bone age. Other possible signs include developmental delay, low muscle tone, curved fingers, congenital heart defects, and kidney problems.

Common symptoms seen in people with this condition include multiple joint dislocations, unusual facial features (such as macrocephaly, flat occiput, prominent forehead, hypertelorism, low-set or malformed ears, flat nose, and cleft palate), spinal abnormalities, cylindrical fingers, and clubfoot (talipes equinovarus). Growth retardation, resulting short stature, delayed bone age, developmental delay, hypotonia, clinodactyly, congenital heart defects, and renal dysplasia have also been reported.

This condition is a primary bone dysplasia. There is a genetic component with a known gene called LRSL that has been associated with the disorder. The details on how changes in this gene lead to the features of this condition are still being studied.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.