Dysmelia

Congenital disorder of a limb

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

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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

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

## Causes

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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

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This section needs more reliable medical references for verification or relies too heavily on primary sources. Please review the contents of the section and add the appropriate references if you can. Unsourced or poorly sourced material may be challenged and removed. Find sources: "Dysmelia" – news · newspapers · books · scholar · JSTOR (October 2020)

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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

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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.

## External links

[edit]

* DysNet: An organisation for people affected by Dysmelia (congenital limb difference)
* Reach: Association for Children with Upper Limb Deficiency)

* v
* t
* e

Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality

Appendicular
limb / dysmelia|

| Arms|

| clavicle / shoulder|

* Cleidocranial dysostosis
* Sprengel's deformity
* Wallis–Zieff–Goldblatt syndrome

|

hand deformity|

* Madelung's deformity
* Clinodactyly
* Oligodactyly
* Polydactyly

Leg|

| hip|

* Hip dislocation / Hip dysplasia
* Upington disease
* Coxa valga
* Coxa vara

|

knee|

* Genu valgum
* Genu varum
* Genu recurvatum
* Discoid meniscus
* Congenital patellar dislocation
* Congenital knee dislocation

foot deformity|

* varus
* Club foot
* Pigeon toe
* valgus
* Flat feet
* Pes cavus
* Rocker bottom foot
* Hammer toe

Either / both|

| fingers and toes|

* Polydactyly / Syndactyly
* Webbed toes
* Arachnodactyly
* Cenani–Lenz syndactylism
* Ectrodactyly
* Brachydactyly
* Stub thumb

|

reduction deficits / limb|

* Acheiropodia
* Ectromelia
* Phocomelia
* Amelia
* Hemimelia

multiple joints|

* Arthrogryposis
* Larsen syndrome
* RAPADILINO syndrome

Axial|

| Skull and face|

| Craniosynostosis|

* Scaphocephaly
* Oxycephaly
* Trigonocephaly

|

Craniofacial dysostosis|

* Crouzon syndrome
* Hypertelorism
* Hallermann–Streiff syndrome
* Oto-palato-digital syndrome
* Treacher Collins syndrome

other|

* Macrocephaly
* Platybasia
* Craniodiaphyseal dysplasia
* Dolichocephaly
* Greig cephalopolysyndactyly syndrome
* Plagiocephaly
* Saddle nose

Vertebral column|

* Spinal curvature
* Scoliosis
* Klippel–Feil syndrome
* Spondylolisthesis
* Spina bifida occulta
* Sacralization

Thoracic skeleton|

| ribs:|

* Cervical
* Bifid

|

sternum:|

* Pectus excavatum
* Pectus carinatum

other:|

* Poland syndrome

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