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Absent hand

MedGen UID:
488815
Concept ID:
C0265594
Congenital Abnormality
Synonym: Acheiria
SNOMED CT: Congenital absence of hand (371199008); Acheiria (371199008); Agenesis of hand (1003510009)
 
HPO: HP:0004050
Monarch Initiative: MONDO:0017445
Orphanet: ORPHA294983

Definition

The total absence of the hand, with no bony elements distal to the radius or ulna. [from HPO]

Conditions with this feature

Acheiropodia
MedGen UID:
120547
Concept ID:
C0265559
Congenital Abnormality
Acheiropody is characterized by bilateral congenital amputations of the upper and lower extremities and aplasia of the hands and feet. Specific patterns of malformations consist of a complete amputation of the distal epiphysis of the humerus, amputation of the distal part of the tibial diaphysis, and aplasia of the radius, ulna, fibula, and of the carpal, metacarpal, tarsal, metatarsal, and phalangeal bones (summary by Ianakiev et al., 2001).

Professional guidelines

Recent clinical studies

Etiology

Fagard J, Chapelain A, Bonnet P
Laterality 2015;20(5):543-70. Epub 2015 Feb 10 doi: 10.1080/1357650X.2015.1009089. PMID: 25665979
Rombokas E, Stepp CE, Chang C, Malhotra M, Matsuoka Y
IEEE Trans Biomed Eng 2013 Aug;60(8):2226-32. Epub 2013 Mar 11 doi: 10.1109/TBME.2013.2252174. PMID: 23508245
Bertelli JA, Ghizoni MF, Loure Iro Chaves DP
Microsurgery 2011 Feb;31(2):93-7. Epub 2010 Oct 11 doi: 10.1002/micr.20832. PMID: 20939002

Diagnosis

Syngelaki A, Chelemen T, Dagklis T, Allan L, Nicolaides KH
Prenat Diagn 2011 Jan;31(1):90-102. doi: 10.1002/pd.2642. PMID: 21210483
Bertelli JA, Ghizoni MF, Loure Iro Chaves DP
Microsurgery 2011 Feb;31(2):93-7. Epub 2010 Oct 11 doi: 10.1002/micr.20832. PMID: 20939002
Croaker GD, Harvey JG, Cass DT
J Pediatr Surg 1997 Sep;32(9):1368-70. doi: 10.1016/s0022-3468(97)90325-0. PMID: 9314266

Therapy

Datta AN, Bahi-Buisson N, Bienvenu T, Buerki SE, Gardiner F, Cross JH, Heron B, Kaminska A, Korff CM, Lepine A, Lesca G, McTague A, Mefford HC, Mignot C, Milh M, Piton A, Pressler RM, Ruf S, Sadleir LG, de Saint Martin A, Van Gassen K, Verbeek NE, Ville D, Villeneuve N, Zacher P, Scheffer IE, Lemke JR
Epilepsia 2021 Feb;62(2):325-334. Epub 2021 Jan 7 doi: 10.1111/epi.16761. PMID: 33410528Free PMC Article
Elbert T, Sterr A, Flor H, Rockstroh B, Knecht S, Pantev C, Wienbruch C, Taub E
Exp Brain Res 1997 Oct;117(1):161-4. doi: 10.1007/s002210050210. PMID: 9386015

Clinical prediction guides

Syngelaki A, Chelemen T, Dagklis T, Allan L, Nicolaides KH
Prenat Diagn 2011 Jan;31(1):90-102. doi: 10.1002/pd.2642. PMID: 21210483
Bertelli JA, Ghizoni MF, Loure Iro Chaves DP
Microsurgery 2011 Feb;31(2):93-7. Epub 2010 Oct 11 doi: 10.1002/micr.20832. PMID: 20939002
Elbert T, Sterr A, Flor H, Rockstroh B, Knecht S, Pantev C, Wienbruch C, Taub E
Exp Brain Res 1997 Oct;117(1):161-4. doi: 10.1007/s002210050210. PMID: 9386015

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