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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

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVHemimelia

Abnormality of prenatal development or birth
- Fetal anomaly
  - Congenital Systemic Disorder
    - Congenital anomaly of musculoskeletal system
      - Congenital deformities of limbs
        Ectromelia
        Hemimelia
        Fibular hemimelia
        Radial hemimelia
        Tibial hemimelia
        Ulnar hemimelia

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

See all (7)

Recent clinical studies

Etiology

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: 37936235 Free PMC Article

Hydrotherapy for Patients With External Fixation: Effect on Infectious Events.

Goldman V, Weiss PL, Weil Y, Eylon S
J Pediatr Orthop 2023 Mar 1;43(3):187-191. Epub 2023 Jan 10 doi: 10.1097/BPO.0000000000002341. PMID: 36728393

Three-dimensional correction of fibular hemimelia using a computer-assisted planning : technical report and literature review.

Burssens A, Vermue H, Weinberg M, Van Oevelen A, Lauwagie S, Forward M, Plasschaert F
Acta Orthop Belg 2020 Sep;86(3):383-390. PMID: 33581021

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

See all (79)

Diagnosis

Hydrotherapy for Patients With External Fixation: Effect on Infectious Events.

Goldman V, Weiss PL, Weil Y, Eylon S
J Pediatr Orthop 2023 Mar 1;43(3):187-191. Epub 2023 Jan 10 doi: 10.1097/BPO.0000000000002341. PMID: 36728393

Fibular hemimelia.

Georgescu T, Ionescu O, Toader OD, Bacalbasa N, Pop LG
J Med Life 2022 Apr;15(4):587-588. doi: 10.25122/jml-2021-0397. PMID: 35646168 Free PMC Article

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

Congenital limb deficiency disorders.

Wilcox WR, Coulter CP, Schmitz ML
Clin Perinatol 2015 Jun;42(2):281-300, viii. doi: 10.1016/j.clp.2015.02.004. PMID: 26042905

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

See all (74)

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: 27227952 Free 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: 24664194 Free PMC Article

Limb anomalies in chromosomal aberrations.

Pfeiffer RA, Santelmann R
Birth Defects Orig Artic Ser 1977;13(1):319-37. PMID: 322750

See all (28)

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: 37936235 Free 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.

See all (49)

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

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: 27227952 Free 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

Congenital deficiency of the tibia: a report on 22 cases.

Fernandez-Palazzi F, Bendahan J, Rivas S
J Pediatr Orthop B 1998 Oct;7(4):298-302. doi: 10.1097/01202412-199810000-00008. PMID: 9810529

Limb anomalies in chromosomal aberrations.

Pfeiffer RA, Santelmann R
Birth Defects Orig Artic Ser 1977;13(1):319-37. PMID: 322750

See all (42)