Dysmelia

Dysmelia can refer to • missing (aplasia) limbs: amelia (including tetraamelia), oligodactyly, congenital amputation e.g. tibial or radial aplasia • malformation of limbs: shortening (micromelia, rhizomelia or mesomelia), ectrodactyly, phocomelia, meromelia, syndactyly, brachydactyly, club foot • extra limbs: polymelia, polydactyly, polysyndactyly • others: hemimelia, symbrachydactyly patient == Occurrence rate ==

Birth defects involving limbs occur in 0.69 per 1000. == Causes ==

Dysmelia can be caused by • Inheritance of abnormal genes, e.g. polydactyly, ectrodactyly or brachydactyly, symptoms of deformed limbs then often occur in combination with other symptoms (syndromes) • external causes during pregnancy (thus not inherited), e.g. via amniotic band syndrome • teratogenic drugs (e.g. thalidomide, which causes phocomelia) or environmental chemicals • ionizing radiation (nuclear weapons, radioiodine, radiation therapy) • infections • metabolic imbalance ==Syndromes with dysmelia==

• 2p15-16.1 microdeletion syndrome • Achard syndrome • Ackerman syndrome • Acrocallosal syndrome • Acropectoral syndrome • Adams–Oliver syndrome • Aglossia adactylia • Amniotic band syndrome • Apert syndrome • Autosomal recessive Robinow syndrome • Basel–Vanagaite–Sirota syndrome (Microlissencephaly-Micromelia syndrome) • Campomelic dysplasia • Cardiofaciocutaneous syndrome • Catel–Manzke syndrome • Cenani–Lenz syndrome • Corneodermatoosseous syndrome • Diploid triploid mosaic • Ectrodactyly–ectodermal dysplasia–cleft syndrome • Edwards syndrome • Ellis–Van Creveld syndrome • Fibular dimelia diplopodia syndrome (Leg duplication mirror foot syndrome) • Greig cephalopolysyndactyly syndrome • Haas syndrome • Hanhart syndrome • Holt–Oram syndrome • Humeroradial synostosis • Johnson–Munson syndrome • Joubert syndrome • McKusick–Kaufman syndrome • Mermaid syndrome • Mesomelia-Synostoses syndrome (8q13 microdeletion syndrome) • Microgastria • Myhre syndrome • Nager acrofacial dysostosis • Neu–Laxova syndrome • Patau syndrome • Pfeiffer syndrome • Poland syndrome • Radial aplasia • Roberts SC-Phocomelia syndrome (Phocomelia syndrome) • Rubinstein–Taybi syndrome • Silver–Russell syndrome • Split-hand split-foot malformation (SHFM) • TAR syndrome (thrombocytopenia with absent radius) • Tetra-amelia syndrome • Ulbright–Hodes syndrome • VACTERL association • Wallis–Zieff–Goldblatt syndrome ==References==