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Madelung deformity

MedGen UID:
57537
Concept ID:
C0152441
Congenital Abnormality
Synonym: Madelung Deformity
SNOMED CT: Madelung deformity (4530000); Madelung's deformity (4530000); Carpus curvus (4530000)
 
HPO: HP:0003067
Monarch Initiative: MONDO:0018154
OMIM®: 127300

Definition

An anomaly related to partial closure, or failure of development of the ulnar side of the distal radial growth plate, which results in an arrest of epiphyseal growth of the medial and volar portions of the distal radius. This leads to shortening of the radius and relative overgrowth of the ulna. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMadelung deformity
Follow this link to review classifications for Madelung deformity in Orphanet.

Conditions with this feature

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.
Langer mesomelic dysplasia syndrome
MedGen UID:
96585
Concept ID:
C0432230
Disease or Syndrome
Langer mesomelic dysplasia (LMD) is characterized by severe limb aplasia or severe hypoplasia of the ulna and fibula, and a thickened and curved radius and tibia. These changes can result in displacement deformities of the hands and feet. Hypoplasia of the mandible is also observed (Langer, 1967). See also Leri-Weill dyschondrosteosis (127300), a less severe phenotype that results from heterozygous defect in the SHOX or SHOXY genes.
Microcephalic osteodysplastic dysplasia, Saul-Wilson type
MedGen UID:
722057
Concept ID:
C1300285
Disease or Syndrome
Saul-Wilson syndrome (SWS) is a skeletal dysplasia characterized by profound short stature, distinctive craniofacial features, short distal phalanges of fingers and toes, and often clubfoot. Early development (primarily speech and motor) is delayed; cognition is normal. Other findings can include hearing loss (conductive, sensorineural, and mixed), lamellar cataracts, and/or rod-cone retinal dystrophy. To date, 16 affected individuals have been reported.
Brachydactyly type C
MedGen UID:
350590
Concept ID:
C1862103
Congenital Abnormality
The brachydactyly type C (BDC) phenotype includes brachymesophalangy of fingers 2, 3, and 5. The fourth finger is usually unaffected and thus appears as the longest finger of the hand. Shortening of metacarpal 1 and hyperphalangy in fingers 2 and 3 may occur and can be considered relatively characteristic signs. BDC can be highly variable, ranging from severely affected hands with very short fingers to mildly affected cases with only moderate brachydactyly, most often affecting the middle and proximal phalanges of fingers 2 and 3 (summary by Lehmann et al., 2006).
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.
Intellectual developmental disorder, X-linked 112
MedGen UID:
1840225
Concept ID:
C5829589
Disease or Syndrome
X-linked intellectual disorder-112 (XLID112) is a neurodevelopmental disorder characterized by developmental delay, with speech delay more prominent than motor delay, autism or autism traits, and variable dysmorphic features. Affected females have been reported, which appears to be related to skewed X-inactivation (summary by Hiatt et al., 2023).

Professional guidelines

PubMed

Del Core M, Beckwith T, Phillips L, Ezaki M, Stutz C, Oishi SN
J Pediatr Orthop 2020 Apr;40(4):e306-e311. doi: 10.1097/BPO.0000000000001504. PMID: 32032220
Otte JE, Popp JE, Samora JB
J Hand Surg Am 2019 Feb;44(2):158.e1-158.e9. Epub 2018 Jun 20 doi: 10.1016/j.jhsa.2018.04.033. PMID: 29934079
Auger J, Baptiste A, Benabbad I, Thierry G, Costa JM, Amouyal M, Kottler ML, Leheup B, Touraine R, Schmitt S, Lebrun M, Cormier Daire V, Bonnefont JP, de Roux N, Elie C, Rosilio M
Horm Res Paediatr 2016;86(5):309-318. Epub 2016 Sep 28 doi: 10.1159/000448282. PMID: 27676402

Recent clinical studies

Etiology

Piek AR, Peymani A, Dobbe JGG, Buijze GA, Chammas M, Streekstra GJ, Strackee SD
Hand (N Y) 2023 Mar;18(2_suppl):17S-23S. Epub 2021 Jun 6 doi: 10.1177/15589447211017223. PMID: 34096342Free PMC Article
Hegazy G, Mansour T, Alshal E, Abdelaziz M, Alnahas M, El-Sebaey I
J Hand Surg Eur Vol 2019 Jun;44(5):524-531. Epub 2019 Feb 27 doi: 10.1177/1753193419832233. PMID: 30813847
Saffar P, Badina A
Chir Main 2015 Dec;34(6):279-85. Epub 2015 Oct 30 doi: 10.1016/j.main.2015.10.001. PMID: 26525609
Kozin SH, Zlotolow DA
J Hand Surg Am 2015 Oct;40(10):2090-8. Epub 2015 Sep 1 doi: 10.1016/j.jhsa.2015.03.033. PMID: 26341718
Huguet S, Leheup B, Aslan M, Muller F, Dautel G, Journeau P; French Society of Pediatric Orthopaedics (SOFOP)
Orthop Traumatol Surg Res 2014 Oct;100(6 Suppl):S349-52. Epub 2014 Sep 10 doi: 10.1016/j.otsr.2014.06.007. PMID: 25217032

Diagnosis

Farr S, Zlotolow DA, Bachy M, Peymani A, Hülsemann W, Winge MI
J Hand Surg Eur Vol 2023 Dec;48(11):1116-1125. Epub 2023 Aug 12 doi: 10.1177/17531934231191208. PMID: 37572317
Sellami M, Maatallah K, Riahi H, Bouaziz MC, Hamdi W, Kchir MM
J Clin Rheumatol 2020 Dec;26(8):e317-e318. doi: 10.1097/RHU.0000000000001172. PMID: 31714299
Peymani A, Dobbe JGG, Streekstra GJ, McCarroll HR, Strackee SD
J Hand Surg Eur Vol 2019 Dec;44(10):1041-1048. Epub 2019 Sep 24 doi: 10.1177/1753193419876203. PMID: 31550979Free PMC Article
Kozin SH, Zlotolow DA
J Hand Surg Am 2015 Oct;40(10):2090-8. Epub 2015 Sep 1 doi: 10.1016/j.jhsa.2015.03.033. PMID: 26341718
Ly-Pen D, Andreu JL
Reumatol Clin 2014 Mar-Apr;10(2):125-6. Epub 2013 Dec 7 doi: 10.1016/j.reuma.2013.05.001. PMID: 24316335

Therapy

Del Core M, Beckwith T, Phillips L, Ezaki M, Stutz C, Oishi SN
J Pediatr Orthop 2020 Apr;40(4):e306-e311. doi: 10.1097/BPO.0000000000001504. PMID: 32032220
Marstrand-Joergensen MR, Jensen RB, Aksglaede L, Duno M, Juul A
Pediatr Res 2017 Feb;81(2):335-341. Epub 2016 Nov 4 doi: 10.1038/pr.2016.233. PMID: 27814343
Paynter M
Emerg Nurse 2005 Dec;13(8):20-1. doi: 10.7748/en2005.12.13.8.20.c1200. PMID: 16375003
Binder G, Renz A, Martinez A, Keselman A, Hesse V, Riedl SW, Häusler G, Fricke-Otto S, Frisch H, Heinrich JJ, Ranke MB
J Clin Endocrinol Metab 2004 Sep;89(9):4403-8. doi: 10.1210/jc.2004-0591. PMID: 15356038
Binder G, Fritsch H, Schweizer R, Ranke MB
Horm Res 2001;55(2):71-6. doi: 10.1159/000049973. PMID: 11509862

Prognosis

Farr S, Martínez-Alvarez S, Little KJ, Henstenburg J, Ristl R, Stauffer A, Soldado F, Zlotolow DA
J Hand Surg Eur Vol 2021 May;46(4):384-390. Epub 2021 Jan 17 doi: 10.1177/1753193420981522. PMID: 33459142Free PMC Article
Giberson-Chen CC, Leland HA, Benavent KA, Harper CM, Earp BE, Rozental TD
J Hand Surg Am 2020 May;45(5):408-416. Epub 2020 Jan 13 doi: 10.1016/j.jhsa.2019.11.014. PMID: 31948706
Hegazy G, Mansour T, Alshal E, Abdelaziz M, Alnahas M, El-Sebaey I
J Hand Surg Eur Vol 2019 Jun;44(5):524-531. Epub 2019 Feb 27 doi: 10.1177/1753193419832233. PMID: 30813847
Kozin SH, Zlotolow DA
J Hand Surg Am 2015 Oct;40(10):2090-8. Epub 2015 Sep 1 doi: 10.1016/j.jhsa.2015.03.033. PMID: 26341718
Huguet S, Leheup B, Aslan M, Muller F, Dautel G, Journeau P; French Society of Pediatric Orthopaedics (SOFOP)
Orthop Traumatol Surg Res 2014 Oct;100(6 Suppl):S349-52. Epub 2014 Sep 10 doi: 10.1016/j.otsr.2014.06.007. PMID: 25217032

Clinical prediction guides

Peymani A, Lokhorst MM, Chen AD, van der Horst CMAM, Lee BT, Lin SJ, Strackee SD
Hand (N Y) 2023 Mar;18(2_suppl):24S-31S. Epub 2021 Nov 12 doi: 10.1177/15589447211054133. PMID: 34772284Free PMC Article
Piek AR, Peymani A, Dobbe JGG, Buijze GA, Chammas M, Streekstra GJ, Strackee SD
Hand (N Y) 2023 Mar;18(2_suppl):17S-23S. Epub 2021 Jun 6 doi: 10.1177/15589447211017223. PMID: 34096342Free PMC Article
Leti Acciaro A, Garagnani L, Lando M, Lana D, Sartini S, Adani R
J Plast Surg Hand Surg 2022 Apr;56(2):121-126. Epub 2021 Jun 9 doi: 10.1080/2000656X.2021.1934845. PMID: 34106811
Giberson-Chen CC, Leland HA, Benavent KA, Harper CM, Earp BE, Rozental TD
J Hand Surg Am 2020 May;45(5):408-416. Epub 2020 Jan 13 doi: 10.1016/j.jhsa.2019.11.014. PMID: 31948706
Hegazy G, Mansour T, Alshal E, Abdelaziz M, Alnahas M, El-Sebaey I
J Hand Surg Eur Vol 2019 Jun;44(5):524-531. Epub 2019 Feb 27 doi: 10.1177/1753193419832233. PMID: 30813847

Recent systematic reviews

Peymani A, Johnson AR, Dowlatshahi AS, Dobbe JGG, Lin SJ, Upton J, Streekstra GJ, Strackee SD
Hand (N Y) 2019 Nov;14(6):725-734. Epub 2018 Aug 13 doi: 10.1177/1558944718793179. PMID: 30102073Free PMC Article

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