eMedicine Specialties > Orthopedic Surgery > Knee

Fibular Hemimelia

Author: Michael C Holmstrom, MD, Consulting Surgeon, Department of Orthopedics, The Orthopedic Specialty Hospital (TOSH)
Coauthor(s): Peter M Stevens, MD, Professor, Director of Pediatric Orthopedic Fellowship Program, Department of Orthopedics, University of Utah School of Medicine
Contributor Information and Disclosures

Updated: Aug 14, 2008

Introduction

Fibular hemimelia was described initially as a condition that is related to aplasia or hypoplasia of the fibula.1 Coventry and Johnson, and later Achterman and Kalamchi, provided early classification systems.2,3 These are primarily based on and concerned with treatment of the accompanying limb-length discrepancy.

A constellation of lower-extremity features accompanies fibular hemimelia. These should be evaluated and treated when appropriate. The association of these features has led to a recent recommendation that the name postaxial hypoplasia of the lower extremity may be more appropriate and a better description of the entire pattern of abnormalities seen with this syndrome.4

Related Medscape topics:
Specialty site Orthopaedics
Orthopaedics News

Related eMedicine topic:
 Limping Child

History of the Procedure

Historically, the recommended treatment for postaxial hypoplasia of the lower extremity (fibular hemimelia) was amputation, but only as a last resort. However, Herring et al showed that patients who undergo amputation after several failed attempts at salvage are at high risk for emotional problems.5,6 Therefore, determining which patients fare better with immediate amputation is important. Generally, these are patients with a nonfunctional foot or a limb-length discrepancy of more than 20-30%.7

Then, the need arose to establish criteria for the indications for amputation. The first recommendations used a projected limb-length discrepancy of 3 inches at maturity as an appropriate cutoff. However, as limb-lengthening techniques have improved, this length criterion has increased, and limb salvage is regarded more often as a feasible option. Other features of postaxial hypoplasia have also been investigated, and treatments have been defined.

Related eMedicine topic:
Amputations of the Lower Extremity

Problem

As is evidenced by its historic name, a primary feature of fibular hemimelia is the fibular abnormality. This may range from a minimal shortening of the fibula to its complete absence. See Clinical for other related features.

Frequency

Postaxial hypoplasia of the lower extremity (fibular hemimelia) is rare and has variable expression, ranging from mild deformity (which the patient may never notice) to severe deformity.

Etiology

Although a number of causes have been suggested for postaxial hypoplasia of the lower extremity (fibular hemimelia), recent theory postulates that interference with limb-bud development plays an important role. Widespread pathology throughout the limb has been noted, even in mild cases of fibular deficiency.8 During the fetal period, the fibular field of the limb bud controls development of the proximal femur, explaining the frequent association of femoral abnormalities. Other associated abnormalities of the knee, leg, ankle, and foot also are related to the fibular field of the lower limb bud.9,10,11 Therefore, postaxial hypoplasia of the lower extremity is a descriptive term that encompasses this constellation of abnormalities.

Related eMedicine topic:
 Lower Limb Embryology

Pathophysiology

See Etiology.

Presentation

Presentations of postaxial hypoplasia of the lower extremity (fibular hemimelia) vary widely, ranging from what appears to be merely an absent fifth toe in a newborn or a minimal difference in limb lengths, to severe fibular deformities that are immediately apparent. The clinician must also look for associated abnormalities, including problems with alignment and stability, and must realize that the clinical picture may evolve with growth and development.

Clinical findings may include the following:

  • Fibular abnormality, ranging from minimal shortening to complete absence of the fibula
  • Proximal femoral focal deficiency (PFFD)
  • Coxa vara
  • Femoral hypoplasia with external rotation
  • Lateral patellar subluxation
  • Hypoplastic lateral femoral condyle
  • Genu valgus with lateral mechanical axis displacement
  • Flattened tibial eminence with absent cruciate and a positive Lachman sign
  • Short and/or bowed tibia
  • Ankle valgus
  • Ball-and-socket ankle
  • Absent tarsal bones
  • Tarsal coalitions
  • Absent foot rays

Related eMedicine topics:
Congenital Coxa Vara
Genu Valgum, Pediatrics
Proximal Femoral Focal Deficiency
Tarsal Coalition
Tibial Bowing

Indications

Evaluate the entire limb in patients presenting with postaxial hypoplasia of the lower extremity (fibular hemimelia), specifically examining for all of the previously mentioned clinical features. This is important and helpful for developing a treatment plan, both to guide the physician's treatment decisions and to inform the family of what they might expect.

The ultimate goal is to enable the child to gain maximal function by achieving adequate lower-extremity alignment, length, and stability. If this is not possible, the goal is an appropriately timed amputation to allow the child's development with the use of a functional prosthesis. Goals and expectations must be realistic. When treatment alternatives are discussed, the social and psychological state of the child and the child's family must be considered, especially if multiple surgeries are anticipated.

Relevant Anatomy

Fibular hemimelia cannot be characterized fully by any single anatomic feature. The condition encompasses a constellation of features that are best addressed individually to obtain optimal limb length, alignment, and function.

Contraindications

As with any surgical procedure, the potential benefits must outweigh the risks. Although a number of abnormalities are related to postaxial hypoplasia of the lower extremity (fibular hemimelia), limb-length discrepancy is one of the more difficult to address. If the difference is minimal or if it is large and accompanied by a nonfunctional foot, the decision is relatively straightforward. However, in many situations, several relative contraindications to limb-lengthening salvage operations may be present.

The recommended maximum to be corrected is 7.5-15 cm. Other relative contraindications include a nonfunctional foot, a limb that may have severe cosmetic problems, or a patient who may not tolerate multiple surgeries over an extended period.

Each patient's situation is unique, however. Most patients and parents want the limb to be as normal as possible, and they may wish to undergo the long-term treatment necessary to achieve this goal despite relative contraindications.

More on Fibular Hemimelia

Overview: Fibular Hemimelia
Workup: Fibular Hemimelia
Treatment: Fibular Hemimelia
Follow-up: Fibular Hemimelia
Multimedia: Fibular Hemimelia
References
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References

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  2. Coventry M, Johnson E. Congenital absence of the fibula. J Bone Joint Surg Am. 1952;34:941-55.

  3. Achterman C, Kalamchi A. Congenital deficiency of the fibula. J Bone Joint Surg Br. May 1979;61-B(2):133-7. [Medline].

  4. Stevens PM, Arms D. Postaxial hypoplasia of the lower extremity. J Pediatr Orthop. Mar-Apr 2000;20(2):166-72. [Medline].

  5. Herring JA, Barnhill B, Gaffney C. Syme amputation. An evaluation of the physical and psychological function in young patients. J Bone Joint Surg Am. Apr 1986;68(4):573-8. [Medline].

  6. Herring JA. Symes amputation for fibular hemimelia: a second look in the Ilizarov era. Instr Course Lect. 1992;41:435-6. [Medline].

  7. Choi IH, Kumar SJ, Bowen JR. Amputation or limb-lengthening for partial or total absence of the fibula. J Bone Joint Surg Am. Oct 1990;72(9):1391-9. [Medline].

  8. Baek GH, Kim JK, Chung MS, Lee SK. Terminal hemimelia of the lower extremity: absent lateral ray and a normal fibula. Int Orthop. Apr 2008;32(2):263-7. [Medline].

  9. Lewin SO, Opitz JM. Fibular a/hypoplasia: review and documentation of the fibular developmental field. Am J Med Genet Suppl. 1986;2:215-38. [Medline].

  10. Monteagudo A, Dong R, Timor-Tritsch IE. Fetal fibular hemimelia: case report and review of the literature. J Ultrasound Med. Apr 2006;25(4):533-7. [Medline].

  11. Tonbul M, Adas M, Keris I. Combined fibular and tarsal agenesis in a case of lower extremity hemimelia. J Foot Ankle Surg. Jul-Aug 2007;46(4):278-82. [Medline].

  12. Manner HM, Radler C, Ganger R, Grill F. Knee deformity in congenital longitudinal deficiencies of the lower extremity. Clin Orthop Relat Res. Jul 2006;448:185-92. [Medline].

  13. Grogan DP, Holt GR, Ogden JA. Talocalcaneal coalition in patients who have fibular hemimelia or proximal femoral focal deficiency. A comparison of the radiographic and pathological findings. J Bone Joint Surg Am. Sep 1994;76(9):1363-70. [Medline].

  14. Stanitski DF, Stanitski CL. Fibular Hemimelia: A new classification system. J Pediatr Orthop. 2003;23:30-34.

  15. Hootnick D, Boyd NA, Fixsen JA, Lloyd-Roberts GC. The natural history and management of congenital short tibia with dysplasia or absence of the fibula. J Bone Joint Surg Br. Aug 1977;59(3):267-71. [Medline].

  16. Manner HM, Radler C, Ganger R, Grill F. Dysplasia of the cruciate ligaments: radiographic assessment and classification. J Bone Joint Surg Am. Jan 2006;88(1):130-7. [Medline].

  17. Birch JG, Walsh SJ, Small JM. Syme amputation for the treatment of fibular deficiency. An evaluation of long-term physical and psychological functional status. J Bone Joint Surg Am. Nov 1999;81(11):1511-8. [Medline].

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  19. Eilert RE, Jayakumar SS. Boyd and Syme ankle amputations in children. J Bone Joint Surg Am. Dec 1976;58(8):1138-41. [Medline].

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  22. Thomas IH, Williams PF. The Gruca operation for congenital absence of the fibula. J Bone Joint Surg Br. Aug 1987;69(4):587-92. [Medline].

  23. Stevens PM, Belle RM. Screw epiphysiodesis for ankle valgus. J Pediatr Orthop. Jan-Feb 1997;17(1):9-12. [Medline].

  24. Carroll K, Coleman S, Stevens PM. Coxa vara: surgical outcomes of valgus osteotomies. J Pediatr Orthop. Mar-Apr 1997;17(2):220-4. [Medline].

  25. Birch JG, Lincoln TL, Mack PW. Functional classification of fibular deficiency. In: Herring JA, Birch JG, eds. The Child with a Limb Deficiency. Rosemont, IL: American Academy of Orthopaedic Surgeons;1998: 161.

  26. Morrissy RT, Giavedoni BJ, Coultery-O'Berry C. The limb-deficient child. In: Pediatric Orthopedics. 5th ed. 2001: 1227-33.

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Further Reading

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Keywords

fibular hemimelia,  fibular hypoplasia, fibula hypoplasia, fibula aplasia, fibular aplasia, fibular abnormality, postaxial hypoplasia of the lower extremity, limb-length discrepancy, postaxial hypoplasia of the lower extremity, amelia, phocomelia, ectromelia, sirenomelia

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Contributor Information and Disclosures

Author

Michael C Holmstrom, MD, Consulting Surgeon, Department of Orthopedics, The Orthopedic Specialty Hospital (TOSH)
Michael C Holmstrom, MD is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American Medical Association, Arthroscopy Association of North America, Pediatric Orthopaedic Society of North America, and Utah Medical Association
Disclosure: Nothing to disclose.

Coauthor(s)

Peter M Stevens, MD, Professor, Director of Pediatric Orthopedic Fellowship Program, Department of Orthopedics, University of Utah School of Medicine
Peter M Stevens, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Orthopaedic Surgeons, American Orthopaedic Association, Limb Lengthening and Reconstruction Society ASAMI-North America, Pediatric Orthopaedic Society of North America, Utah Medical Association, and Western Orthopaedic Association
Disclosure: Orthofix Inc Royalty Independent contractor

Medical Editor

Dennis P Grogan, MD, Clinical Professor, Department of Orthopedic Surgery, University of South Florida College of Medicine; Chief of Staff, Department of Orthopedic Surgery, Shriners Hospital for Children of Tampa
Dennis P Grogan, MD is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American Medical Association, American Orthopaedic Association, American Orthopaedic Foot and Ankle Society, Eastern Orthopaedic Association, Irish American Orthopaedic Society, Pediatric Orthopaedic Society of North America, and Scoliosis Research Society
Disclosure: Nothing to disclose.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: Nothing to disclose.

Managing Editor

Thomas M DeBerardino, MD, Director, John A Feagin, Jr, Sports Medicine Fellowship at West Point, Associate Professor of Orthopedic Surgery, Uniformed Services University of the Health Sciences and Keller Army Community Hospital
Thomas M DeBerardino, MD is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American Orthopaedic Association, and American Orthopaedic Society for Sports Medicine
Disclosure: Arthrex, Inc. Grant/research funds None; Arthrex, Inc. Honoraria Speaking and teaching; Genzyme Biosurgery. Inc. Grant/research funds Other; Musculoskeletal Transplant Foundation Grant/research funds Other; Histogenics Grant/research funds None

CME Editor

Dinesh Patel, MD, FACS, Associate Clinical Professor of Orthopedic Surgery, Harvard Medical School; Chief of Arthroscopic Surgery, Department of Orthopedic Surgery, Massachusetts General Hospital
Dinesh Patel, MD, FACS is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American Association of Physicians of Indian Origin, American College of International Physicians, and American College of Surgeons
Disclosure: Nothing to disclose.

Chief Editor

Carlos J Lavernia, MD, FAAOS, Adjunct Clinical Professor, Department of Orthopedic Surgery, University of Miami School of Medicine; Medical Director, Orthopedic Institute at Mercy Hospital
Carlos J Lavernia, MD, FAAOS is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American Association of Hip and Knee Surgeons, Arthritis Foundation, Biomedical Engineering Society, Florida Orthopaedic Society, and Orthopaedic Research Society
Disclosure: Zimmer Stock Implant Designer

 
 
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