Fibular hemimelia

Fibular hemimelia

Hemimelia in an amphibian affecting both calf and foot on one side
Classification and external resources
Specialty	medical genetics
ICD-10	Q73.8
DiseasesDB	33931
MeSH	D004480

Fibular hemimelia or longitudinal fibular deficiency is "the congenital absence of the fibula and it is the most common congenital absence of long bone of the extremities."^[1]^[2] It is the shortening of the fibula at birth, or the complete lack thereof. In humans, the disorder can be noted by ultrasound in utero to prepare for amputation after birth or complex bone lengthening surgery. The amputation usually takes place at six months with removal of portions of the legs to prepare them for prosthetic use. The other treatments which include repeated corrective osteotomies and leg-lengthening surgery are costly and associated with residual deformity.^[3]

Characteristics

Bones of human lower extremity

Characteristics are:

A fibrous band instead of the fibula
Short deformed leg
Absence of the lateral part of the ankle joint (due to absence of the distal end of the fibula), and what is left is unstable; the foot has an equinovalgus deformity
Possible absence of part of the foot requiring surgical intervention to bring the foot into normal function, or amputation.
Possible absence of one or two toes on the foot

Partial or total absence of fibula is among the most frequent limb anomalies. It is the most common long bone deficiency and is the most common skeletal deformity in the leg. It most often is unilateral (present only on one side). Paraxial fibular hemimelia is the most common manifestation in which only the postaxial portion of the limb is affected. It is commonly seen as complete terminal deficiency, where the lateral rays of the foot are also affected. Hemimelia can also be intercalary in which case the foot remains unaffected. Although the missing bone is easily identified, this condition is not simply a missing bone.^[2] Males are affected twice as often as females in most series.^[4]

Causes

The cause of fibular hemimelia is unclear. Purportedly, there have been some incidents of genetic distribution in a family; however, this does not account for all cases. Maternal viral infections, embryonic trauma, teratogenic environmental exposures or vascular dysgenesis (failure of the embryo to form a satisfactory blood supply) between four and seven weeks gestation are considered possible causes.^[5]

In an experimental mouse model, change in the expression of a homeobox gene led to similar, but bilateral, fibular defects.^[6]

Notable people

Alex Schwartz - Famous Motivating Youtuber
Jessica Long - American Paralympic swimmer
Liam Malone - New Zealand Paralympic athlete
Aimee Mullins - American Paralympic athlete, actress, and fashion model
Oscar Pistorius - Retired South African Paralympic and Olympic athlete

References

↑ Eze, KC; Akhigbe, AO; Awosanya, GO (2007). "Fibular hemimelia: A case report". Nigerian journal of clinical practice. 10 (3): 259–61. PMID 18072458.
1 2 Achterman, C; Kalamchi, A (May 1979). "Congenital deficiency of the fibula.". The Journal of bone and joint surgery. British volume. 61–B (2): 133–7. PMID 438260.
↑ Stanitski, DF; Stanitski, CL (2003). "Fibular hemimelia: A new classification system". Journal of pediatric orthopedics. 23 (1): 30–4. PMID 12499939. doi:10.1097/01241398-200301000-00006.
↑ "Fibular Hemimelia: (longitudinal fibular deficiency) - Wheeless' Textbook of Orthopaedics". Wheelessonline.com. 2011-03-30. Retrieved 2012-08-03.
↑ "Fibular Hemimelia". orpha.net. Retrieved 2013-02-24.
↑ Papenbrock, T; et al. (2000). "Loss of fibula in mice overexpressing Hoxc11.". Mechanisms of development. 92: 113–123. PMID 10727851. doi:10.1016/S0925-4773(99)00344-5.

External links

Journal of Joint Bone Surgery 1997 Jan;79(1):58-65.
North American Reporting Center for Amphibian Malformations (NARCAM) Jul. 2011
Minnesota's Malformed Frogs Jul. 2011
Studies offer new insights into causes of deformed frogs Jul. 2011
Deformed Frogs Raise Concerns Jul. 2011
Deformed Frog Pictures Jul. 2011
http://www.wheelessonline.com/ortho/fibular_hemimelia_longitudinal_fibular_deficiency
http://www.sonoworld.com/TheFetus/page.aspx?id=342
http://www.jbjs.org.uk/cgi/content/abstract/49-B/1/59
Severe tibial growth retardation in total fibular hemimelia after limb lengthening. Journal of Pediatric Orthopaedics, 2003 http://www.jbjs.org.uk/cgi/reprint/79-B/1/58

Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality (Q65–Q76, 754–756.3)

Appendicular
limb / dysmelia

Arms

clavicle / shoulder:	Cleidocranial dysostosis Sprengel's deformity Wallis–Zieff–Goldblatt syndrome
hand deformity:	Madelung's deformity Clinodactyly Oligodactyly Polydactyly

Leg

hip:	Dislocation of hip / Hip dysplasia Upington disease Coxa valga Coxa vara
knee:	Genu valgum Genu varum Genu recurvatum Discoid meniscus Congenital patellar dislocation Congenital knee dislocation
foot deformity:	varus Club foot Pigeon toe valgus Flat feet Pes cavus Rocker bottom foot Hammer toe

Either / both

fingers and toes	Polydactyly / Syndactyly webbed toes Arachnodactyly Cenani–Lenz syndactylism Ectrodactyly Brachydactyly Clubbed thumb
reduction deficits / limb:	Acheiropodia ectromelia Phocomelia Amelia Hemimelia
multiple joints:	Arthrogryposis Larsen syndrome Rapadilino syndrome

Axial

Skull and face

Craniosynostosis:	Scaphocephaly Oxycephaly Trigonocephaly
Craniofacial dysostosis:	Crouzon syndrome Hypertelorism Hallermann–Streiff syndrome Treacher Collins syndrome
other:	Macrocephaly Platybasia Craniodiaphyseal dysplasia Dolichocephaly Greig cephalopolysyndactyly syndrome Plagiocephaly Saddle nose

Vertebral column

Thoracic skeleton

ribs:	Cervical Bifid
sternum:	Pectus excavatum Pectus carinatum

Congenital abnormality syndromes (Q87, 759.7)

Craniofacial

Acrocephalosyndactylia Apert syndrome Carpenter syndrome Pfeiffer syndrome Saethre–Chotzen syndrome Sakati–Nyhan–Tisdale syndrome
other:	Baller–Gerold syndrome Cyclopia Goldenhar syndrome Möbius syndrome

Short stature

Limbs

Adducted thumb syndrome Holt–Oram syndrome Klippel–Trénaunay–Weber syndrome Nail–patella syndrome Rubinstein–Taybi syndrome
Gastrulation/mesoderm:	Caudal regression syndrome Ectromelia Sirenomelia VACTERL association

Overgrowth

Laurence–Moon–Bardet–Biedl

Combined/other,
known locus

2 (Feingold syndrome)
3 (Zimmermann–Laband syndrome)
4/13 (Fraser syndrome)
8 (Branchio-oto-renal syndrome, CHARGE syndrome)
12 (Keutel syndrome, Timothy syndrome)
15 (Marfan syndrome)
19 (Donohue syndrome)
Multiple
- Fryns syndrome

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