Dysmelia

Types

• missing limbs: amelia, oligodactyly, congenital amputation e.g. tibial or radial aplasia
• malformation of limbs: shortening, ectrodactyly, phocomelia, meromelia, syndactyly, brachydactyly, club foot
• extra limbs: polymelia, polydactyly, polysyndactyly
• others: hemimelia, symbrachydactyly

  Occurrence rate

Causes

• Inheritance of abnormal genes, e.g. polydactyly, ectrodactyly or brachydactyly, symptoms of deformed limbs then often occur in combination with other symptoms
• external causes during pregnancy, e.g. via amniotic band syndrome
• teratogenic drugs or environmental chemicals
• ionizing radiation
• 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
• 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
• 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
• Microgastria
• Myhre syndrome
• Nager acrofacial dysostosis
• Neu–Laxova syndrome
• Patau syndrome
• Pfeiffer syndrome
• Poland syndrome
• Radial aplasia
• Roberts SC-Phocomelia syndrome
• Rubinstein–Taybi syndrome
• Silver–Russell syndrome
• Split-hand split-foot malformation
• TAR syndrome
• Tetra-amelia syndrome
• Ulbright–Hodes syndrome
• VACTERL association
• Wallis–Zieff–Goldblatt syndrome