Langer mesomelic dysplasia
Langer mesomelic dysplasia (LMD) is a rare congenital disorder characterized by an altered bone formation that causes a severe short and disproportionate stature.
| Langer mesomelic dysplasia | |
|---|---|
| Specialty | Medical genetics |
Signs and symptoms
Clinically and radiologically the disease is characterized by severe shortening of long bones (limb's both proximal and median segments are affected), aplasia or severe hypoplasia of ulna and fibula, thickened and curved radius and tibia. These anomalies can cause deformities of the hands and feet. Hypoplasia of the mandible can also be present.
Pathogenesis
At the core of the disorder there is a homozygous or compound heterozygous mutation or deletion of the SHOX (Short Stature Homeobox), SHOXY (Short Stature Homeobox Y-linked) or PAR1 (where SHOX enhancer elements are located) genes, which is inherited in a pseudosomal recessive manner.
Diagnosis
Diagnosis may be suspected on the basis of the clinical and radiologic findings, and can supported by molecular analysis of the SHOX, SHOXY and PAR1 genes. May also be suspected by ultrasound during the second trimester of gestation.
Classification
It's part of the mesomelic and rhizomelic skeletal dysplasias, primary bone diseases in which the short stature is due to a lack of complete bone development of the limb's long bones. It's strictly related to another disease, the Léri–Weill dyschondrosteosis, of which it seems to be the homozygothic variant, clinically more severe (it differs from this disorder for the absence, in some cases, of the Madelung deformity too).
Treatment
There is no known cure. In selected patients orthopaedic surgery may be helpful to try to gain some functionality of severely impaired joints.
Prognosis
Life expectancy is normal.