Categories
  • Congenital disorders of musculoskeletal system
  • Supernumerary body parts
    •   Encyclosphere.org ENCYCLOREADER
      supported by EncyclosphereKSF

    Dysmelia

    From Wikipedia - Reading time: 6 min
    Piglet with dipygus at Ukrainian National Chernobyl Museum in Kyiv

    Dysmelia (from the Greek dys (δυσ-), "bad" + mélos (μέλος), "limb" + English suffix -ia) is a congenital disorder of a limb resulting from a disturbance in embryonic development.[1]

    Types

    [edit]
    Syndactyly of the second and third toes

    Dysmelia can refer to [citation needed]

    • 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
    Bilateral polydactyly with short fingers in Ellis–Van Creveld syndrome patient

    Occurrence rate

    [edit]

    Birth defects involving limbs occur in 0.69 per 1000.[2]

    Causes

    [edit]

    Dysmelia can be caused by[citation needed]

    • 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

    [edit]
    Main page: Category: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

    [edit]
    1. ^ "Dysmelia (Limb Deficiency/Reduction)". Atlas of Genetic Diagnosis and Counseling. Humana Press. 2006. pp. 312–322.
    2. ^ McGuirk, Caroline K.; Westgate, Marie-Noel; Holmes, Lewis B. (2001-10-01). "Limb Deficiencies in Newborn Infants". Pediatrics. 108 (4). American Academy of Pediatrics (AAP): e64. doi:10.1542/peds.108.4.e64. ISSN 1098-4275. PMID 11581472. S2CID 1863175.
    [edit]
    This article is licensed under CC BY-SA 3.0.
    Original source: https://en.wikipedia.org/wiki/Dysmelia
    Status: article is cached
    Encyclosphere.org EncycloReader is supported by the EncyclosphereKSF