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Hemimelia

MedGen UID:
9194
•Concept ID:
C0018987
•
Congenital Abnormality
Synonyms: hemimelia; Longitudinal meromelia; longitudinal meromelia
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Not genetically inherited (Orphanet)
 
Monarch Initiative: MONDO:0016240
Orphanet: ORPHA2130

Definition

Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia (see these terms). Hemimelia ranges in severity. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHemimelia
Follow this link to review classifications for Hemimelia in Orphanet.

Professional guidelines

PubMed

Proximal Femoral Focal Deficiency/Congenital Femoral Deficiency: Evaluation and Management.
Nossov SB, Hollin IL, Phillips J, Franklin CC
J Am Acad Orthop Surg 2022 Jul 1;30(13):e899-e910. Epub 2022 Apr 28 doi: 10.5435/JAAOS-D-21-01186. PMID: 35486897
Common Patterns of Congenital Lower Extremity Shortening: Diagnosis, Classification, and Follow-up.
Bedoya MA, Chauvin NA, Jaramillo D, Davidson R, Horn BD, Ho-Fung V
Radiographics 2015 Jul-Aug;35(4):1191-207. doi: 10.1148/rg.2015140196. PMID: 26172360
Prenatal diagnosis of congenital femoral deficiency and fibular hemimelia.
Radler C, Myers AK, Hunter RJ, Arrabal PP, Herzenberg JE
Prenat Diagn 2014 Oct;34(10):940-5. Epub 2014 May 15 doi: 10.1002/pd.4396. PMID: 24764248

Recent clinical studies

Therapy

Outcomes of Limb Lengthening With Computer-assisted Hexapod External Fixators in the Treatment of Fibular Hemimelia.
Bakircioglu S, Goker B, Yilmaz A, Aksoy T, Aksoy MC, Yilmaz G
J Pediatr Orthop 2023 Aug 1;43(7):e574-e582. Epub 2023 May 23 doi: 10.1097/BPO.0000000000002436. PMID: 37254033
Amputation Versus Limb Reconstruction for Fibula Hemimelia: A Meta-analysis.
Elmherig A, Ahmed AF, Hegazy A, Herzenberg JE, Ibrahim T
J Pediatr Orthop 2020 Sep;40(8):425-430. doi: 10.1097/BPO.0000000000001510. PMID: 31972725
Clinical Results and Complications of Lower Limb Lengthening for Fibular Hemimelia: A Report of Eight Cases.
Mishima K, Kitoh H, Iwata K, Matsushita M, Nishida Y, Hattori T, Ishiguro N
Medicine (Baltimore) 2016 May;95(21):e3787. doi: 10.1097/MD.0000000000003787. PMID: 27227952Free PMC Article
Internal lengthening device for congenital femoral deficiency and fibular hemimelia.
Shabtai L, Specht SC, Standard SC, Herzenberg JE
Clin Orthop Relat Res 2014 Dec;472(12):3860-8. doi: 10.1007/s11999-014-3572-3. PMID: 24664194Free PMC Article
Limb anomalies in chromosomal aberrations.
Pfeiffer RA, Santelmann R
Birth Defects Orig Artic Ser 1977;13(1):319-37. PMID: 322750

Prognosis

Simultaneous femoral and tibial lengthening for severe limb length discrepancy in fibular hemimelia.
Ghaly HM, El-Rosasy MA, Marei AE, El-Gebaly OA
J Orthop Surg Res 2023 Nov 8;18(1):844. doi: 10.1186/s13018-023-04229-y. PMID: 37936235Free PMC Article
Proximal Femoral Focal Deficiency/Congenital Femoral Deficiency: Evaluation and Management.
Nossov SB, Hollin IL, Phillips J, Franklin CC
J Am Acad Orthop Surg 2022 Jul 1;30(13):e899-e910. Epub 2022 Apr 28 doi: 10.5435/JAAOS-D-21-01186. PMID: 35486897
Constant inhibition in congenital lower extremity shortening: does it begin in utero?
Tsai A, Laor T, Estroff JA, Kasser JR
Pediatr Radiol 2018 Sep;48(10):1451-1462. Epub 2018 May 24 doi: 10.1007/s00247-018-4153-5. PMID: 29797037
Common Patterns of Congenital Lower Extremity Shortening: Diagnosis, Classification, and Follow-up.
Bedoya MA, Chauvin NA, Jaramillo D, Davidson R, Horn BD, Ho-Fung V
Radiographics 2015 Jul-Aug;35(4):1191-207. doi: 10.1148/rg.2015140196. PMID: 26172360
Imaging features of lower limb malformations above the foot.
Bergère A, Amzallag-Bellenger E, Lefebvre G, Dieux-Coeslier A, Mezel A, Herbaux B, Boutry N
Diagn Interv Imaging 2015 Sep;96(9):901-14. Epub 2015 Apr 24 doi: 10.1016/j.diii.2014.08.008. PMID: 25920687

Clinical prediction guides

Physical performance of children with longitudinal fibular deficiency (fibular hemimelia).
Morris EJ, Tofts L, Patterson M, Birke O, Adams R, Epps A, Knox K, McKay MJ, Baldwin JN, Burns J, Pacey V
Disabil Rehabil 2022 Jun;44(12):2763-2773. Epub 2020 Dec 17 doi: 10.1080/09638288.2020.1849420. PMID: 33331793
Ulnar hemimelia: a report of four cases.
Özdemir M, Turan A, Kavak RP
Skeletal Radiol 2019 Jul;48(7):1137-1143. Epub 2019 Feb 2 doi: 10.1007/s00256-019-3167-x. PMID: 30712123
Clinical Results and Complications of Lower Limb Lengthening for Fibular Hemimelia: A Report of Eight Cases.
Mishima K, Kitoh H, Iwata K, Matsushita M, Nishida Y, Hattori T, Ishiguro N
Medicine (Baltimore) 2016 May;95(21):e3787. doi: 10.1097/MD.0000000000003787. PMID: 27227952Free PMC Article
Foot centralization for tibial hemimelia.
Wada A, Nakamura T, Urano N, Kubota H, Oketani Y, Taketa M, Fujii T
J Pediatr Orthop B 2015 Mar;24(2):147-53. doi: 10.1097/BPB.0000000000000149. PMID: 25622236
Limb anomalies in chromosomal aberrations.
Pfeiffer RA, Santelmann R
Birth Defects Orig Artic Ser 1977;13(1):319-37. PMID: 322750

Recent systematic reviews

Amputation Versus Limb Reconstruction for Fibula Hemimelia: A Meta-analysis.
Elmherig A, Ahmed AF, Hegazy A, Herzenberg JE, Ibrahim T
J Pediatr Orthop 2020 Sep;40(8):425-430. doi: 10.1097/BPO.0000000000001510. PMID: 31972725

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