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Abnormal carpal morphology

MedGen UID:
374491
Concept ID:
C1840535
Anatomical Abnormality; Finding
Synonym: Abnormality of the carpal bones
 
HPO: HP:0001191

Definition

An abnormality affecting the carpal bones of the wrist (scaphoid, lunate, triquetral, pisiform, trapezium, trapezoid, capitate, hamate). [from HPO]

Conditions with this feature

Holt-Oram syndrome
MedGen UID:
120524
Concept ID:
C0265264
Disease or Syndrome
Holt-Oram syndrome (HOS) is characterized by upper-limb defects, congenital heart malformation, and cardiac conduction disease. Upper-limb malformations may be unilateral, bilateral/symmetric, or bilateral/asymmetric and can range from triphalangeal or absent thumb(s) to phocomelia. Other upper-limb malformations can include unequal arm length caused by aplasia or hypoplasia of the radius, fusion or anomalous development of the carpal and thenar bones, abnormal forearm pronation and supination, abnormal opposition of the thumb, sloping shoulders, and restriction of shoulder joint movement. An abnormal carpal bone is present in all affected individuals and may be the only evidence of disease. A congenital heart malformation is present in 75% of individuals with HOS and most commonly involves the septum. Atrial septal defect and ventricular septal defect can vary in number, size, and location. Complex congenital heart malformations can also occur in individuals with HOS. Individuals with HOS with or without a congenital heart malformation are at risk for cardiac conduction disease. While individuals may present at birth with sinus bradycardia and first-degree atrioventricular (AV) block, AV block can progress unpredictably to a higher grade including complete heart block with and without atrial fibrillation.
Leri-Weill dyschondrosteosis
MedGen UID:
75562
Concept ID:
C0265309
Disease or Syndrome
The phenotypic spectrum of SHOX deficiency disorders, caused by haploinsufficiency of the short stature homeobox-containing gene (SHOX), ranges from Leri-Weill dyschondrosteosis (LWD) at the severe end of the spectrum to nonspecific short stature at the mild end of the spectrum. In adults with SHOX deficiency, the proportion of LWD versus short stature without features of LWD is not well defined. In LWD the classic clinical triad is short stature, mesomelia, and Madelung deformity. Mesomelia, in which the middle portion of a limb is shortened in relation to the proximal portion, can be evident first in school-aged children and increases with age in frequency and severity. Madelung deformity (abnormal alignment of the radius, ulna, and carpal bones at the wrist) typically develops in mid-to-late childhood and is more common and severe in females. The phenotype of short stature caused by SHOX deficiency in the absence of mesomelia and Madelung deformity (called SHOX-deficient short stature in this GeneReview) is highly variable, even within the same family.
Juberg-Hayward syndrome
MedGen UID:
162906
Concept ID:
C0796099
Disease or Syndrome
Juberg-Hayward syndrome (JHS) is characterized by cleft lip and palate, rhizomelia of the upper limbs with limited elbow extension due to humeroradial synostosis or dislocation of the radial head, and digital anomalies, including shortened thumbs and index and fifth fingers. Microcephaly has been observed in some patients (Kantaputra et al., 2020).
Brachydactyly-elbow wrist dysplasia syndrome
MedGen UID:
396103
Concept ID:
C1861313
Disease or Syndrome
Liebenberg syndrome is an upper limb malformation characterized by the combination of dysplastic elbow joints and the fusion of wrist bones with consequent radial deviation (summary by Spielmann et al., 2012).
Seckel syndrome 7
MedGen UID:
766784
Concept ID:
C3553870
Disease or Syndrome
Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intelletual disability, severe adult short stature and facial dysmorphism (incl. hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated.

Professional guidelines

PubMed

Rios-Russo JL, Lozada-Bado LS, de Mel S, Frontera W, Micheo W
Curr Sports Med Rep 2021 Jun 1;20(6):312-318. doi: 10.1249/JSR.0000000000000853. PMID: 34099609
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Ann Anat 2015 Mar;198:58-65. Epub 2014 Dec 10 doi: 10.1016/j.aanat.2014.11.002. PMID: 25556074
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Radiol Med 2012 Dec;117(8):1355-73. Epub 2012 Sep 17 doi: 10.1007/s11547-012-0875-x. PMID: 22986695

Recent clinical studies

Etiology

Sperry BW, Reyes BA, Ikram A, Donnelly JP, Phelan D, Jaber WA, Shapiro D, Evans PJ, Maschke S, Kilpatrick SE, Tan CD, Rodriguez ER, Monteiro C, Tang WHW, Kelly JW, Seitz WH Jr, Hanna M
J Am Coll Cardiol 2018 Oct 23;72(17):2040-2050. doi: 10.1016/j.jacc.2018.07.092. PMID: 30336828
Baek GH, Kim J
J Hand Surg Asian Pac Vol 2016 Oct;21(3):283-91. doi: 10.1142/S2424835516400087. PMID: 27595943
Cimaz R, La Torre F
Curr Rheumatol Rep 2014 Jan;16(1):389. doi: 10.1007/s11926-013-0389-0. PMID: 24264718
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Semin Cutan Med Surg 2007 Jun;26(2):90-5. doi: 10.1016/j.sder.2007.02.005. PMID: 17544960
Rennie WR, Muller H
Can J Surg 1998 Aug;41(4):306-8. PMID: 9711164Free PMC Article

Diagnosis

Society for Maternal-Fetal Medicine (SMFM), Gandhi M, Rac MWF, McKinney J
Am J Obstet Gynecol 2019 Dec;221(6):B16-B18. doi: 10.1016/j.ajog.2019.09.024. PMID: 31787159
Ringler MD, Murthy NS
Magn Reson Imaging Clin N Am 2015 Aug;23(3):367-91. doi: 10.1016/j.mric.2015.04.007. PMID: 26216769
Bouche P
Handb Clin Neurol 2013;115:311-66. doi: 10.1016/B978-0-444-52902-2.00019-9. PMID: 23931789
Maschke SD, Seitz W, Lawton J
J Am Acad Orthop Surg 2007 Jan;15(1):41-52. doi: 10.5435/00124635-200701000-00005. PMID: 17213381
Grassi W, De Angelis R, Lamanna G, Cervini C
Eur J Radiol 1998 May;27 Suppl 1:S18-24. doi: 10.1016/s0720-048x(98)00038-2. PMID: 9652497

Therapy

Society for Maternal-Fetal Medicine (SMFM), Gandhi M, Rac MWF, McKinney J
Am J Obstet Gynecol 2019 Dec;221(6):B16-B18. doi: 10.1016/j.ajog.2019.09.024. PMID: 31787159
Ginanneschi F, Mondelli M, Cioncoloni D, Rossi A
J Electromyogr Kinesiol 2018 Jun;40:32-38. Epub 2018 Mar 20 doi: 10.1016/j.jelekin.2018.03.004. PMID: 29587171
Murphy GRF, Logan MPO, Smith G, Sivakumar B, Smith P
J Bone Joint Surg Am 2017 Dec 20;99(24):2120-2126. doi: 10.2106/JBJS.17.00164. PMID: 29257019Free PMC Article
Tomatsu S, Alméciga-Díaz CJ, Montaño AM, Yabe H, Tanaka A, Dung VC, Giugliani R, Kubaski F, Mason RW, Yasuda E, Sawamoto K, Mackenzie W, Suzuki Y, Orii KE, Barrera LA, Sly WS, Orii T
Mol Genet Metab 2015 Feb;114(2):94-109. Epub 2014 Dec 9 doi: 10.1016/j.ymgme.2014.12.001. PMID: 25537451Free PMC Article
De Smet L
Acta Orthop Belg 2002 Oct;68(4):325-9. PMID: 12415932

Prognosis

Aucourt J, Budzik JF, Manouvrier-Hanu S, Mézel A, Cotten A, Boutry N
Semin Musculoskelet Radiol 2012 Apr;16(2):146-58. Epub 2012 May 30 doi: 10.1055/s-0032-1311766. PMID: 22648430
Scanlon A, Maffei J
J Neurosci Nurs 2009 Jun;41(3):140-7. doi: 10.1097/jnn.0b013e3181a39481. PMID: 19517764
Scutellari PN, Orzincolo C
Eur J Radiol 1998 May;27 Suppl 1:S31-8. doi: 10.1016/s0720-048x(98)00040-0. PMID: 9652499
Grassi W, De Angelis R, Lamanna G, Cervini C
Eur J Radiol 1998 May;27 Suppl 1:S18-24. doi: 10.1016/s0720-048x(98)00038-2. PMID: 9652497
Ogden JA, Watson HK, Bohne W
J Bone Joint Surg Am 1976 Jun;58(4):467-75. PMID: 818089

Clinical prediction guides

Tran CT, Smet ME, Forsey J, Zankl A, Nayyar R
Fetal Diagn Ther 2022;49(11-12):479-485. Epub 2022 Dec 7 doi: 10.1159/000527594. PMID: 36476632
Baek GH, Kim J
J Hand Surg Asian Pac Vol 2016 Oct;21(3):283-91. doi: 10.1142/S2424835516400087. PMID: 27595943
Budzik JF, Balbi V, Verclytte S, Pansini V, Le Thuc V, Cotten A
Radiographics 2014 May-Jun;34(3):E56-72. doi: 10.1148/rg.343125062. PMID: 24819802
Davis KW
Radiol Clin North Am 2010 Nov;48(6):1199-211. doi: 10.1016/j.rcl.2010.07.020. PMID: 21094406
Ogden JA, Watson HK, Bohne W
J Bone Joint Surg Am 1976 Jun;58(4):467-75. PMID: 818089

Recent systematic reviews

Ferguson R, Riley ND, Wijendra A, Thurley N, Carr AJ, Bjf D
BMC Musculoskelet Disord 2019 Nov 14;20(1):542. doi: 10.1186/s12891-019-2902-8. PMID: 31727033Free PMC Article
Ginanneschi F, Mondelli M, Cioncoloni D, Rossi A
J Electromyogr Kinesiol 2018 Jun;40:32-38. Epub 2018 Mar 20 doi: 10.1016/j.jelekin.2018.03.004. PMID: 29587171
Murphy GRF, Logan MPO, Smith G, Sivakumar B, Smith P
J Bone Joint Surg Am 2017 Dec 20;99(24):2120-2126. doi: 10.2106/JBJS.17.00164. PMID: 29257019Free PMC Article
Fayad LM, Ahlawat S, Khan MS, McCarthy E
Eur J Radiol 2015 Oct;84(10):2004-12. Epub 2015 Jul 2 doi: 10.1016/j.ejrad.2015.06.026. PMID: 26189572
Yammine K
Clin Anat 2014 Nov;27(8):1284-90. Epub 2014 Jun 23 doi: 10.1002/ca.22429. PMID: 24953717

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