hemimelia

半肢症、半肢

関: amelia、ectromelia、phocomelia、sirenomelia

WordNet

an abnormality of development in which the upper part of an arm or leg is missing so the hands or feet are attached to the body like stumps; rare condition that results from taking thalidomide during pregnancy (同)seal limbs
congenital absence of an arm or leg

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2016/12/30 22:35:30」(JST)

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Hemimelia comprises

Fibular hemimelia, Congenital longitudinal deficiency of the fibula or Fibular longitudinal meromelia^[1]
Tibial hemimelia, Congenital longitudenal deficiency of the tibia, Congenital aplasia and dysplasia of the tibia with intact fibula, Congenital longitudinal deficiency of the tibia or Tibial longitudinal meromelia^[2]
Radial Hemimelia, Congenital longitudinal deficiency of the radius, Radial clubhand, Radial longitidinal meromelia or Radial ray agenesis^[3]
Ulnar hemimelia, Congenital longitudinal deficiency of the ulna, Ulnar clubhand or Ulnar longitudinal meromelia^[4]

References

^ Orphanet 93323
^ Orphanet 93322
^ Orphanet 93321
^ Orphanet 93320

Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality (Q65–Q76, 754–756.3)

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:	Dislocation of hip / 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 Clubbed 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 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

Congenital abnormality syndromes (Q87, 759.7)

Craniofacial

Acrocephalosyndactylia Apert syndrome Carpenter syndrome Pfeiffer syndrome Saethre–Chotzen syndrome Sakati–Nyhan–Tisdale syndrome

other:	Baller–Gerold syndrome Cyclopia Goldenhar syndrome Möbius syndrome

Short stature

1q21.1 deletion syndrome
Aarskog–Scott syndrome
Cockayne syndrome
Cornelia de Lange Syndrome
Dubowitz syndrome
Noonan syndrome
Robinow syndrome
Silver–Russell syndrome
Seckel syndrome
Smith–Lemli–Opitz syndrome
Turner syndrome

Limbs

Adducted thumb syndrome Holt–Oram syndrome Klippel–Trénaunay–Weber syndrome Nail–patella syndrome Rubinstein–Taybi syndrome

Gastrulation/mesoderm:	Caudal regression syndrome Ectromelia Sirenomelia VACTERL association

Overgrowth

Beckwith–Wiedemann syndrome
Perlman syndrome
Sotos syndrome
Weaver syndrome

Laurence–Moon–Bardet–Biedl

Bardet–Biedl syndrome
Laurence–Moon syndrome

Combined/other,
known locus

2 (Feingold syndrome)
3 (Zimmermann–Laband syndrome)
4/13 (Fraser syndrome)
8 (Branchio-oto-renal syndrome, CHARGE syndrome)
12 (Keutel syndrome, Timothy syndrome)
15 (Marfan syndrome)
19 (Donohue syndrome)
Multiple
- Fryns syndrome

UpToDate Contents

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1. 微細欠失症候群（1番～11番染色体） microdeletion syndromes chromosomes 1 to 11

English Journal

Contraceptive vaccines based on the zona pellucida glycoproteins for dogs and other wildlife population management.

Gupta SK, Srinivasan VA, Suman P, Rajan S, Nagendrakumar SB, Gupta N, Shrestha A, Joshi P, Panda AK.SourceReproductive Cell Biology Laboratory, National Institute of Immunology, Aruna Asaf Ali Marg, New Delhi, India R&D Center, Indian Immunologicals Limited, Gachibowli, Hyderabad, India Product Development Cell, National Institute of Immunology, Aruna Asaf Ali Marg, New Delhi, India.
American journal of reproductive immunology (New York, N.Y. : 1989).Am J Reprod Immunol.2011 Jul;66(1):51-62. doi: 10.1111/j.1600-0897.2011.01004.x. Epub 2011 Apr 19.
Citation Gupta SK, Srinivasan VA, Suman P, Rajan S, Nagendrakumar SB, Gupta N, Shrestha A, Joshi P, Panda AK. Contraceptive vaccines based on the zona pellucida glycoproteins for dogs and other wildlife population management. Am J Reprod Immunol 2011; 66: 51-62 Zona pellucida (ZP) glycoproteins, by
PMID 21501280

TCR down-regulation boosts T-cell-mediated cytotoxicity and protection against poxvirus infections.

Hansen AK, Regner M, Bonefeld CM, Boding L, Kongsbak M, Odum N, Mullbacher A, Geisler C, von Essen MR.SourceDepartment of International Health, Immunology and Microbiology, Faculty of Health Sciences, University of Copenhagen, Copenhagen, Denmark.
European journal of immunology.Eur J Immunol.2011 May 17. doi: 10.1002/eji.201141413. [Epub ahead of print]
Cytotoxic T (Tc) cells play a key role in the defense against virus infections. Tc cells recognize infected cells via the T-cell receptor (TCR) and subsequently kill the target cells by one or more cytotoxic mechanisms. Induction of the cytotoxic mechanisms is finely tuned by the activation signals
PMID 21590764

Japanese Journal

Metabolic Consequence of Congenital Asplenia Caused by the Dominant hemimelia Mutation in Mice(Physiology)

SUTO Jun-ichi
The journal of veterinary medical science 71(2), 177-182, 2009-02-25
… In the present study, role of the spleen in lipid metabolism was investigated by use of a hereditary asplenic mouse strain carrying a Dominant hemimelia (Dh) mutation. …
NAID 110007109594

Hermaphrodism and sex reversal associated with the dominant hemimelia mutation in XY mice

SUTO Jun-ichi
Proceedings of the Japan Academy, Series B 85(8), 337-347, 2009
… After two generations of backcrossing six different Y-consomic strains onto a C57BL/6J inbred mouse strain with a dominant hemimelia (Dh) mutation, a small percentage of Dh/+ males containing a Y chromosome from the AKR/J or RF/J strain showed hermaphrodism; …
NAID 130000138038

Related Links

Hemimelia - Wikipedia, the free encyclopedia

Fibular hemimelia or longitudinal fibular deficiency is "the congenital absence of the fibula and it is the most common congenital absence of long bone of the extremities." It is the shortening of the fibula at birth, or the complete ...

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★リンクテーブル★

リンク元	「ectromelia」「半肢症」「amelia」「sirenomelia」「半肢」

「ectromelia」

奇肢症、肢欠損奇形

関: amelia、hemimelia、peromelia、phocomelia、sirenomelia

「半肢症」

英: hemimelia
関: アザラシ肢症、奇肢症、無肢症、半肢、人魚体奇形

「amelia」

関: ectromelia、hemimelia、phocomelia、sirenomelia

　

「sirenomelia」

人魚体奇形

関: amelia、ectromelia、hemimelia、phocomelia

「半肢」

英: hemimelia
関: 半肢症

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