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Brachydactyly-elbow wrist dysplasia syndrome(LBNBG)

MedGen UID:
396103
Concept ID:
C1861313
Disease or Syndrome
Synonyms: BRACHYDACTYLY WITH JOINT DYSPLASIA; Liebenberg syndrome; Synostosis, carpal, with dysplastic elbow joints and brachydactyly
SNOMED CT: Brachydactyly elbow wrist dysplasia (764437006); Liebenberg syndrome (764437006); Brachydactyly with joint dysplasia (764437006)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0008520
OMIM®: 186550
Orphanet: ORPHA1275

Definition

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). [from OMIM]

Additional description

From MedlinePlus Genetics
Liebenberg syndrome is a condition that involves abnormal development of the arms, resulting in characteristic arm malformations that can vary in severity. In people with this condition, bones and other tissues in the elbows, forearms, wrists, and hands have characteristics of related structures in the lower limbs. For example, bones in the elbows are abnormally shaped, which affects mobility of the joints. The stiff elbows function more like knees, unable to rotate as freely as elbows normally do. Bones in the wrists are joined together (fused), forming structures that resemble those in the ankles and heels and causing permanent bending of the hand toward the thumb (radial deviation). The bones in the hands (metacarpals) are longer than normal, and the fingers are short (brachydactyly), similar to the proportions of bones found in the feet. In addition, muscles and tendons that are typically found only in the hands and not in the feet are missing in people with Liebenberg syndrome. Affected individuals also have joint deformities (contractures) that limit movement of the elbows, wrists, and hands. Development of the lower limbs is normal in people with this condition.

Individuals with Liebenberg syndrome have no other health problems related to this condition, and life expectancy is normal.  https://medlineplus.gov/genetics/condition/liebenberg-syndrome

Clinical features

From HPO
Brachydactyly
MedGen UID:
67454
Concept ID:
C0221357
Congenital Abnormality
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.
2-3 finger cutaneous syndactyly
MedGen UID:
96573
Concept ID:
C0432055
Congenital Abnormality
A soft tissue continuity in the anteroposterior axis between the second to the third fingers that extends distally to at least the level of the proximal interphalangeal joints.
Abnormal carpal morphology
MedGen UID:
374491
Concept ID:
C1840535
Anatomical Abnormality
An abnormality affecting the carpal bones of the wrist (scaphoid, lunate, triquetral, pisiform, trapezium, trapezoid, capitate, hamate).
Radially deviated wrists
MedGen UID:
348840
Concept ID:
C1861316
Finding
Elbow flexion contracture
MedGen UID:
98367
Concept ID:
C0409338
Acquired Abnormality
An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position.
Metaphyseal widening
MedGen UID:
341364
Concept ID:
C1849039
Finding
Abnormal widening of the metaphyseal regions of long bones.
Joint contracture of the 5th finger
MedGen UID:
356345
Concept ID:
C1865702
Anatomical Abnormality
Chronic loss of joint motion in the 5th finger due to structural changes in non-bony tissue. The term camptodactyly of the 5th finger is used if the distal and/or proximal interphalangeal joints are affected.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBrachydactyly-elbow wrist dysplasia syndrome
Follow this link to review classifications for Brachydactyly-elbow wrist dysplasia syndrome in Orphanet.

Professional guidelines

PubMed

Wit JM, Kamp GA, Oostdijk W; on behalf of the Dutch Working Group on Triage and Diagnosis of Growth Disorders in Children
Horm Res Paediatr 2019;91(4):223-240. Epub 2019 Jun 13 doi: 10.1159/000499915. PMID: 31195397

Recent clinical studies

Etiology

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
Wit JM, Kamp GA, Oostdijk W; on behalf of the Dutch Working Group on Triage and Diagnosis of Growth Disorders in Children
Horm Res Paediatr 2019;91(4):223-240. Epub 2019 Jun 13 doi: 10.1159/000499915. PMID: 31195397
Child CJ, Kalifa G, Jones C, Ross JL, Rappold GA, Quigley CA, Zimmermann AG, Garding G, Cutler GB Jr, Blum WF
Horm Res Paediatr 2015;84(1):14-25. Epub 2015 May 6 doi: 10.1159/000381712. PMID: 25967354
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
Detweiler S, Thacker MM, Hopkins E, Conway L, Gripp KW
Am J Med Genet A 2013 Aug;161A(8):1940-9. Epub 2013 Jun 27 doi: 10.1002/ajmg.a.36047. PMID: 23813656

Diagnosis

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
Nasarre M, Strik M, Daniel Ramirez F, Buliard S, Marchand H, Abu-Alrub S, Ploux S, Haïssaguerre M, Bordachar P
Europace 2022 Mar 2;24(3):406-412. doi: 10.1093/europace/euab192. PMID: 34468759
Vanhoenacker FM, Simoni P, Bosmans F, Boutry N
Semin Musculoskelet Radiol 2021 Apr;25(2):260-271. Epub 2021 Jun 3 doi: 10.1055/s-0040-1722613. PMID: 34082451
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
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

Therapy

Child CJ, Kalifa G, Jones C, Ross JL, Rappold GA, Quigley CA, Zimmermann AG, Garding G, Cutler GB Jr, Blum WF
Horm Res Paediatr 2015;84(1):14-25. Epub 2015 May 6 doi: 10.1159/000381712. PMID: 25967354
Habenicht R, Hülsemann W, Lohmeyer JA, Mann M
J Plast Reconstr Aesthet Surg 2013 Aug;66(8):1117-22. Epub 2013 May 6 doi: 10.1016/j.bjps.2013.04.042. PMID: 23660282
Yulish BS, Stern RC, Polmar SH
Am J Dis Child 1980 Jan;134(1):61-3. PMID: 7350788

Prognosis

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
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
Detweiler S, Thacker MM, Hopkins E, Conway L, Gripp KW
Am J Med Genet A 2013 Aug;161A(8):1940-9. Epub 2013 Jun 27 doi: 10.1002/ajmg.a.36047. PMID: 23813656
Habenicht R, Hülsemann W, Lohmeyer JA, Mann M
J Plast Reconstr Aesthet Surg 2013 Aug;66(8):1117-22. Epub 2013 May 6 doi: 10.1016/j.bjps.2013.04.042. PMID: 23660282
Burkitt-Wright EM, Bradley L, Shorto J, McConnell VP, Gannon C, Firth HV, Park SM, D'Amore A, Munyard PF, Turnpenny PD, Charlton A, Wilson M, Kerr B
Am J Med Genet A 2012 May;158A(5):1102-10. Epub 2012 Apr 11 doi: 10.1002/ajmg.a.35296. PMID: 22495892Free PMC Article

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
Habenicht R, Hülsemann W, Lohmeyer JA, Mann M
J Plast Reconstr Aesthet Surg 2013 Aug;66(8):1117-22. Epub 2013 May 6 doi: 10.1016/j.bjps.2013.04.042. PMID: 23660282
Oishi SN, Carter P, Bidwell T, Mills J, Ezaki M
J Hand Surg Am 2009 Nov;34(9):1696-9. Epub 2009 Sep 20 doi: 10.1016/j.jhsa.2009.06.025. PMID: 19773129
Ross JL, Scott C Jr, Marttila P, Kowal K, Nass A, Papenhausen P, Abboudi J, Osterman L, Kushner H, Carter P, Ezaki M, Elder F, Wei F, Chen H, Zinn AR
J Clin Endocrinol Metab 2001 Dec;86(12):5674-80. doi: 10.1210/jcem.86.12.8125. PMID: 11739418
Bahabri SA, Suwairi WM, Laxer RM, Polinkovsky A, Dalaan AA, Warman ML
Arthritis Rheum 1998 Apr;41(4):730-5. doi: 10.1002/1529-0131(199804)41:4<730::AID-ART22>3.0.CO;2-Y. PMID: 9550484

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