Institut Guttmann

Neurorehabilitation hospital

+34 93 497 77 00

Dysmelia

It is a congenital abnormal process, characterised by the absence or severe malformations of the extremities of the body, in some cases associated with other cardiovascular, skin, genital or gastrointestinal malformations, or caused by abnormal metabolism during embryonic development. Most of these malformations are secondary to maternal exposure during pregnancy to thalidomide, but other toxic substances that can also cause limb malformations (folic acid antagonists, methotrexate, vitamin A and derivatives, benzodiazepines, coumarin anticoagulants, lithium etc.).

Within dysmelia, there are other malformations, such as amelia, which are absent limbs where the arms and legs connected directly on the trunk; peromelia, consisting of congenital limb shortening in the form of a stump; and micromelia, which is the presence of small limbs.

Dysmelia are considered under the heading of rare diseases with different degrees and types of congenital damage; it affect approximately 5 in 10,000 newborns.

There is currently no specific treatment, although the interdisciplinary rehabilitation approach involving families is the basis for achieving the maximum level of independence in activities of daily living. In many cases patients will require specialised surgery by the neuro-orthopaedic team and prosthetic adaptation, insofar as the child grows.

 

References about Dysmelia

Dysnet, The Online Dysmelia Community
Avite, Asociación de Víctimas de la Talidomida en España y otras inhabilidades