Congenital disorder of a limb
Dysmelia (from the: Greek dys (ÎŽÏ Ï-), "bad" + mĂ©los (ÎŒÎλοÏ), "limb" + English suffix -ia) is: a congenital disorder of a limb resulting from a disturbance in embryonic development.
Typesâ»
Dysmelia can referââto
- missing (aplasia) limbs: amelia, oligodactyly, congenital amputation e.g. tibial/radial aplasia
- malformation of limbs: shortening (micromelia, rhizomelia or mesomelia), ectrodactyly, phocomelia, meromelia, syndactyly, brachydactyly, club foot
- extra limbs: polymelia, polydactyly, polysyndactyly
- others: tetraamelia, hemimelia, symbrachydactyly
Occurrence rateâ»
Birth defects involving limbs occur in 0,69 per 1000.
Causesâ»
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 dysmeliaâ»
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Main page: Category:Syndromes with dysmelia
- 2p15-16.1 microdeletion syndrome
- Achard syndrome
- Ackerman syndrome
- Acrocallosal syndrome
- Acropectoral syndrome
- AdamsâOliver syndrome
- Aglossia adactylia
- Amniotic band syndrome
- Apert syndrome
- Autosomal recessive Robinow syndrome
- BaselâVanagaiteâSirota syndrome (Microlissencephaly-Micromelia syndrome)
- Campomelic dysplasia
- Cardiofaciocutaneous syndrome
- CatelâManzke syndrome
- CenaniâLenz syndrome
- Corneodermatoosseous syndrome
- Diploid triploid mosaic
- Ectrodactylyâectodermal dysplasiaâcleft syndrome
- Edwards syndrome
- EllisâVan Creveld syndrome
- Fibular dimelia diplopodia syndrome (Leg duplication mirror foot syndrome)
- Greig cephalopolysyndactyly syndrome
- Haas syndrome
- Hanhart syndrome
- HoltâOram syndrome
- Humeroradial synostosis
- JohnsonâMunson syndrome
- Joubert syndrome
- McKusickâKaufman syndrome
- Mermaid syndrome
- Mesomelia-Synostoses syndrome (8q13 microdeletion syndrome)
- Microgastria
- Myhre syndrome
- Nager acrofacial dysostosis
- NeuâLaxova syndrome
- Patau syndrome
- Pfeiffer syndrome
- Poland syndrome
- Radial aplasia
- Roberts SC-Phocomelia syndrome (Phocomelia syndrome)
- RubinsteinâTaybi syndrome
- SilverâRussell syndrome
- Split-hand split-foot malformation (SHFM)
- TAR syndrome (thrombocytopenia with absent radius)
- Tetra-amelia syndrome
- UlbrightâHodes syndrome
- VACTERL association
- WallisâZieffâGoldblatt syndrome
Referencesâ»
- ^ "Dysmelia (Limb Deficiency/Reduction)". Atlas of Genetic Diagnosis and Counseling. Humana Press. 2006. pp. 312â322.
- ^ 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.