Dysmelia

Classification according to ICD-10
Q73.8	Other reduction defects of unspecified extremity (s)
ICD-10 online (WHO version 2019)

A Dysmelia is a congenital malformation of one or more limbs , so the arms , hands , legs or feet . A congenital shortening is called micromelia , and a lack of limbs is called amelia . If all four limbs are affected, it is called tetra-amelia .

etymology

The word is derived from the ancient Greek prefix δυς- ( dys- , corresponds to German miss- or un- ) and μέλος mélos “member”. Literally, dysmelia means a deformity of the limbs.

to form

Nick Vujicic , a victim of tetra-hazel

Limb malformations can be:

• complete absence: of limbs amelia , of fingers or toes oligodactyly
• Absence of components such as the long bones in phocomelia , ectromelia
• amputation-like stump: peromelia
• Foreshortening of limbs: of fingers or toes brachydactyly , of arms or legs rhizomelia, mesomelia, acromelia , hemimelia
• Adhesions: of fingers or toes syndactyly , polysyndactyly , ectrodactyly
• too many links: polymelia , polydactyly (a form of polymelia)

Causes of Non-Genetic Dysmelia

The causal influences for non-genetic dysmelia can on the one hand be infections of the pregnant woman and the embryo or oxygen deficiency in the embryo , an amniotic ligament syndrome or malnutrition or malnutrition of the pregnant woman. On the other hand, side effects of drugs and hormone preparations that are taken during pregnancy can also be causes of dysmelia in the unborn child. The best-known example of drug side effects is thalidomide , which triggered the thalidomide scandal .

“Since the development of the extremities depends on the interaction of numerous gene loci, spontaneous mutations are also a common cause. These occur sporadically and are usually not hereditary. An exception are forms of the split hand and foot malformations as well as the longitudinal tibial defect. An etiological connection to exogenous factors has so far only been established with thalidomide. "

Inheritance

If the dysmelia is caused by external influences during pregnancy (e.g. mechanical, see amniotic ligament syndrome ), it is no longer inherited according to the current state of science.

However, genetic defects such as in Holt-Oram syndrome or TAR syndrome (thrombocytopenia absent radius) can also cause malformations of the limbs. The genetic defects are hereditary, but if they are recessive , they do not have to appear.

diagnosis

Dysmelia can be detected in the womb as part of prenatal diagnostics using fine ultrasound .

literature

• Agathe Beitz: Living with Dysmelia , Shaker, Aachen 2016, ISBN 978-3-8440-4942-8
• Ilse Martin: Dysmelia. Congenital limb malformation / s. A handbook and footbook. Homo-Mancus, Maintal 2015, ISBN 978-3-9814104-3-3

Web links

• DysNet, an international network for dysmelia, at rareconnect (partly in German) and on the own server (currently only English) of EDRIC (European Dysmelia Reference Information Center)

Individual evidence

1. ^ Wilhelm Gemoll : Greek-German school and hand dictionary . G. Freytag Verlag / Hölder-Pichler-Tempsky, Munich / Vienna 1965.
2. ↑ Marc F. Sinclair, Congenital Malformations of the Lower Limb in Pediatrics Close Up 5 2003

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !