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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
The child with terminal transverse partial hemimelia: a review of the literature on prosthetic management.
Sypniewski BL
Artif Limbs 1972 Spring;16(1):20-50. PMID: 4567370

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: 37936235Free PMC Article
Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature.
Paththinige CS, Sirisena ND, Escande F, Manouvrier S, Petit F, Dissanayake VHW
BMC Med Genet 2019 Jun 14;20(1):108. doi: 10.1186/s12881-019-0839-2. PMID: 31200655Free PMC Article
Postaxial limb hypoplasia (PALH): the classification, clinical features, and related developmental biology.
Zhang Z, Yi D, Xie R, Hamilton JL, Kang QL, Chen D
Ann N Y Acad Sci 2017 Dec;1409(1):67-78. Epub 2017 Oct 9 doi: 10.1111/nyas.13440. PMID: 28990185Free PMC Article
Prenatal diagnosis of type 1 fibular hemimelia.
Yakut ZI, Ipek A, Akkaya H, Arslan H
J Med Ultrason (2001) 2014 Oct;41(4):515-9. Epub 2014 Jul 16 doi: 10.1007/s10396-014-0550-z. PMID: 27278036
Management of fibular hemimelia using the Ilizarov method.
Catagni MA, Bolano L, Cattaneo R
Orthop Clin North Am 1991 Oct;22(4):715-22. PMID: 1945347

Diagnosis

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: 35646168Free PMC Article
Tibial hemimelia associated with GLI3 truncation.
Deimling S, Sotiropoulos C, Lau K, Chaudhry S, Sturgeon K, Kelley S, Narayanan U, Howard A, Hui CC, Hopyan S
J Hum Genet 2016 May;61(5):443-6. Epub 2016 Jan 21 doi: 10.1038/jhg.2015.161. PMID: 26791356
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 type 1 fibular hemimelia.
Yakut ZI, Ipek A, Akkaya H, Arslan H
J Med Ultrason (2001) 2014 Oct;41(4):515-9. Epub 2014 Jul 16 doi: 10.1007/s10396-014-0550-z. PMID: 27278036
Tibial hemimelia-polydactyly-five-fingered hand syndrome associated with a 404 G>A mutation in a distant sonic hedgehog cis-regulator (ZRS): a case report.
Cho TJ, Baek GH, Lee HR, Moon HJ, Yoo WJ, Choi IH
J Pediatr Orthop B 2013 May;22(3):219-21. doi: 10.1097/BPB.0b013e32835106b2. PMID: 22314436

Therapy

Foetal fibular hemimelia with focal femoral deficiency following prenatal misoprostol use: A case report.
Pallavee P, Samal R, Begum J, Ghose S
J Obstet Gynaecol 2016 Aug;36(6):760-761. Epub 2016 Mar 16 doi: 10.3109/01443615.2016.1157152. PMID: 26979810
Limb lengthening in fibular hemimelia type II: can it be an alternative to amputation?
Zarzycki D, Jasiewicz B, Kacki W, Koniarski A, Kasprzyk M, Zarzycka M, Tesiorowski M
J Pediatr Orthop B 2006 Mar;15(2):147-53. doi: 10.1097/01.bpb.0000184949.00546.04. PMID: 16436952
Contact dermatitis to a limb prosthesis.
Sood A, Taylor JS, Billock JN
Am J Contact Dermat 2003 Sep;14(3):169-71. doi: 10.2310/6620.2003.6121. PMID: 14744411
Preliminary experience with Ilizarov method in late reconstruction of radial hemimelia.
Catagni MA, Szabo RM, Cattaneo R
J Hand Surg Am 1993 Mar;18(2):316-21. doi: 10.1016/0363-5023(93)90367-C. PMID: 8463600
The Syme amputation in children.
Davidson WH, Bohne WH
J Bone Joint Surg Am 1975 Oct;57(7):905-9. PMID: 1184639

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
A rare case of tibial hemimelia, surgical technique and clinical results.
Basso M, Camurri V, Frediani P, Boero S
Acta Orthop Traumatol Turc 2018 Jul;52(4):315-319. Epub 2017 Dec 14 doi: 10.1016/j.aott.2017.11.004. PMID: 29248252Free PMC Article
Prenatal diagnosis of type 1 fibular hemimelia.
Yakut ZI, Ipek A, Akkaya H, Arslan H
J Med Ultrason (2001) 2014 Oct;41(4):515-9. Epub 2014 Jul 16 doi: 10.1007/s10396-014-0550-z. PMID: 27278036
Prenatal diagnosis of unilateral tibial hemimelia.
Dreyfus M, Baldauf JJ, Rigaut E, Clavert JM, Gasser B, Ritter J
Ultrasound Obstet Gynecol 1996 Mar;7(3):205-7. doi: 10.1046/j.1469-0705.1996.07030205.x. PMID: 8705415
Management of fibular hemimelia using the Ilizarov method.
Catagni MA, Bolano L, Cattaneo R
Orthop Clin North Am 1991 Oct;22(4):715-22. PMID: 1945347

Clinical prediction guides

Mandibular-pelvic-patellar syndrome is a novel PITX1-related disorder due to alteration of PITX1 transactivation ability.
Morel G, Duhamel C, Boussion S, Frénois F, Lesca G, Chatron N, Labalme A, Sanlaville D, Edery P, Thevenon J, Faivre L, Fassier A, Prodhomme O, Escande F, Manouvrier S, Petit F, Geneviève D, Rossi M
Hum Mutat 2020 Sep;41(9):1499-1506. Epub 2020 Jul 15 doi: 10.1002/humu.24070. PMID: 32598510
Ankle reconstruction and lengthening strategy in type II fibular hemimelia: a report of two cases.
Sulaiman AR, Munajat I, Mohd EF
Foot (Edinb) 2018 Sep;36:6-9. Epub 2018 Jan 11 doi: 10.1016/j.foot.2018.01.001. PMID: 30041040
Limb lengthening in fibular hemimelia type II: can it be an alternative to amputation?
Zarzycki D, Jasiewicz B, Kacki W, Koniarski A, Kasprzyk M, Zarzycka M, Tesiorowski M
J Pediatr Orthop B 2006 Mar;15(2):147-53. doi: 10.1097/01.bpb.0000184949.00546.04. PMID: 16436952
Knee reconstruction in syndromes with congenital absence of the anterior cruciate ligament.
Gabos PG, El Rassi G, Pahys J
J Pediatr Orthop 2005 Mar-Apr;25(2):210-4. doi: 10.1097/01.bpo.0000153874.74819.29. PMID: 15718904
Prenatal diagnosis of unilateral tibial hemimelia.
Dreyfus M, Baldauf JJ, Rigaut E, Clavert JM, Gasser B, Ritter J
Ultrasound Obstet Gynecol 1996 Mar;7(3):205-7. doi: 10.1046/j.1469-0705.1996.07030205.x. PMID: 8705415

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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