Dysmelia

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

Dysmelia can refer to ^{[citation needed]}

missing (aplasia) limbs: amelia, 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: tetraamelia, hemimelia, symbrachydactyly

Occurrence rate

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

Causes

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

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

^ "Dysmelia (Limb Deficiency/Reduction)". Atlas of Genetic Diagnosis and Counseling. Humana Press. 2006. pp. 312–322.
^ 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.

External links

[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.

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