Mesomelic Dwarfism
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Mesomelia refers to conditions in which the middle parts of limbs are disproportionately short. When applied to
skeletal dysplasias A skeleton is the structural frame that supports the body of an animal. There are several types of skeletons, including the exoskeleton, which is the stable outer shell of an organism, the endoskeleton, which forms the support structure inside ...
, mesomelic dwarfism describes generalised shortening of the forearms and lower legs. This is in contrast to rhizomelic dwarfism in which the upper portions of limbs are short such as in
achondroplasia Achondroplasia is a genetic disorder with an autosomal dominant pattern of inheritance whose primary feature is dwarfism. In those with the condition, the arms and legs are short, while the torso is typically of normal length. Those affected ha ...
. Forms of mesomelic dwarfism currently described include: *
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. Signs and symptoms Clinically and radiologically, the disease is characterized by ...
* Ellis–van Creveld syndrome *
Robinow syndrome Robinow syndrome is an extremely rare genetic disorder characterized by short-limbed dwarfism, abnormalities in the head, face, and external genitalia, as well as vertebral segmentation. The disorder was first described in 1969 by human geneticist ...
*
Léri–Weill dyschondrosteosis Léri–Weill dyschondrosteosis or LWD is a rare pseudoautosomal dominant genetic disorder which results in dwarfism with short forearms and legs ( mesomelic dwarfism) and a bayonet-like deformity of the forearms (Madelung's deformity). Causes It ...


References

Growth disorders {{congenital-malformation-stub