Acheiropodia: Difference between revisions

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	Acheiropodia
	Classification and external resources
OMIM	200500
DiseasesDB	32738

Revision as of 01:43, 9 July 2009

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Overview

Acheiropodia, also known as Horn Kolb Syndrome, Acheiropody and Aleijadinhos (Brazilian type), is an autosomal recessive^[1] disorder that results in hemimelia, a lack of formation of the distal extremities.

This is a congenital defect which consists of bilateral amputations of the distal upper and lower extremities, as well as aplasia of the hands and feet. It was first discovered and is prevalent almost exclusively in Brazil.^[2]

Genetics

It has been associated with a mutation in the LMBR1 gene.^[3]

File:Autorecessive.svg

References

↑ Escamilla, Ma; Demille, Mc; Benavides, E; Roche, E; Almasy, L; Pittman, S; Hauser, J; Lew, Df; Freimer, Nb; Whittle, Mr (2000). "A minimalist approach to gene mapping: locating the gene for acheiropodia, by homozygosity analysis". American journal of human genetics. 66 (6): 1995–2000. doi:10.1086/302921. PMC 1378047. PMID 10780921. Unknown parameter |month= ignored (help)
↑ Freire-Maia, A (1981). "Historical note: the extraordinary handless and footless families of Brazil - 50 years of acheiropodia". American journal of medical genetics. 9 (1): 31–41. doi:10.1002/ajmg.1320090108. PMID 7018242.
↑ Ianakiev P, van Baren MJ, Daly MJ; et al. (2001). "Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene". Am. J. Hum. Genet. 68 (1): 38–45. doi:10.1086/316955. PMC 1234933. PMID 11090342. Unknown parameter |month= ignored (help)

External links

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[pmid10780921-1] Escamilla, Ma; Demille, Mc; Benavides, E; Roche, E; Almasy, L; Pittman, S; Hauser, J; Lew, Df; Freimer, Nb; Whittle, Mr (2000). "A minimalist approach to gene mapping: locating the gene for acheiropodia, by homozygosity analysis". American journal of human genetics. 66 (6): 1995–2000. doi:10.1086/302921. PMC 1378047. PMID 10780921. Unknown parameter |month= ignored (help)

[2] Freire-Maia, A (1981). "Historical note: the extraordinary handless and footless families of Brazil - 50 years of acheiropodia". American journal of medical genetics. 9 (1): 31–41. doi:10.1002/ajmg.1320090108. PMID 7018242.

[pmid11090342-3] Ianakiev P, van Baren MJ, Daly MJ; et al. (2001). "Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene". Am. J. Hum. Genet. 68 (1): 38–45. doi:10.1086/316955. PMC 1234933. PMID 11090342. Unknown parameter |month= ignored (help)

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v t e Congenital malformations and deformations of musculoskeletal system (Q65-Q79, 754-756)
Limbs	hip: Dislocation of hip/Hip dysplasia - Upington disease feet (Club foot, Flat feet, Pes cavus) systemic dislocations Larsen syndrome head, face, spine and chest: skull, face and jaw (Dolichocephaly, Greig cephalopolysyndactyly syndrome, Plagiocephaly) - spine Scoliosis - chest (Pectus excavatum, Pectus carinatum) any combination head, face, jaw, upper limb, lower limb, pelvis, dactyly Antley-Bixler syndrome - Schmitt Gillenwater Kelly syndrome dactyly Polydactyly/Syndactyly (Webbed toes) - Cenani Lenz syndactylism reduction deficits (Acheiropodia, Amelia, Ectrodactyly, Phocomelia) upper limb (Cleidocranial dysostosis, Madelung's deformity, Sprengel's deformity, Wallis Zieff Goldblatt syndrome) knee (Genu valgum, Genu varum) other Arthrogryposis
Skull and facial bones	Carpenter syndrome - Craniodiaphyseal dysplasia - Craniosynostosis (Scaphocephaly) - Crouzon syndrome - Hypertelorism - Macrocephaly - Oxycephaly - Platybasia - Saethre-Chotzen syndrome - Treacher Collins syndrome - Trigonocephaly
Spine and bony thorax	Klippel-Feil syndrome - Spondylolisthesis - Cervical rib - Bifid rib
Osteochondrodysplasia	developement of cartilage, tubular bones and spine: Achondrogenesis/Hypochondrogenesis - Boomerang dysplasia - Thanatophoric dysplasia - Short rib-polydactyly syndrome - Chondrodysplasia punctata (Rhizomelic chondrodysplasia punctata, Conradi-Hünermann syndrome), Achondroplasia (Hypochondroplasia, Osteosclerosis congenita) - Ellis-van Creveld syndrome - Otospondylomegaepiphyseal dysplasia - Spondyloepiphyseal dysplasia congenita - Osteogenesis imperfecta - McCune-Albright syndrome - Osteopetrosis - Metaphyseal dysplasia - Recessive multiple epiphyseal dysplasia - Hereditary multiple exostoses - Osteopoikilosis - Chondrodystrophy - Osteodystrophy - Atelosteogenesis, type II - Diastrophic dysplasia
Other	abdominal wall (Congenital diaphragmatic hernia, Omphalocele, Gastroschisis, Prune belly syndrome) - Ehlers-Danlos syndrome
See also non-congenital conditions (M, 710-739)