Fibular hemimelia is a birth defect where part or all of the fibular bone is missing, as well
as associated limb length discrepancy, foot deformities, and knee deformities. Fibular
hemimelia (FH) is a very rare disorder, occurring in only 1 in 40,000 births. Bilateral
fibular hemimelia (affecting both legs) is even rarer.
It is currently unknown why fibular hemimelia occurs. Research has demonstrated that if
the genes guiding the formation of the limb are activated in an abnormal order, fibular
hemimelia can occur. Other studies have demonstrated that isolated mutations of genes
in the forming limb bud can lead to fibular hemimelia. Although genetic abnormalities
are linked to FH, the condition is not heritable. The gene mutations and abnormalities
are occurring only in the forming limb and not anywhere else, and thus cannot be
transmitted to the next generation.
Furthermore, the vast majority of children born with this condition have no family history
of other birth defects. Neither the parents of the child with FH nor the child themselves
have any increased risk of producing additional children with this or other birth defects.
Children with fibular hemimelia present with three major complaints:
Limb length discrepancy
Foot and ankle deformities
Knee deformity
For more information on the etiology and treatment of fibular hemimelia, please see our
Fibular Hemimelia FAQ. Click here to read Dr. Paley's newest article, Amputation
versus Reconstruction for Fibular Hemimelia.
Limb Length Discrepancy
Fibular hemimelia leads to limb length discrepancy because the tibia on the affected
side grows at a slower rate than the tibia on the opposite side. In addition, many
patients with FH have a slower growing femur as well. This combination of slower tibia
and femur growth leads to a limb length discrepancy. Furthermore, children with FH
have associated foot deformities that result in a shorter foot which also contributes to
the limb length discrepancy.
For more information, see Lengthening for Fibular Hemimelia.
Foot Deformity
Patient with FH during treatment
The foot deformity is one of the biggest issues with fibular hemimelia. The foot deformity
is related to the abnormal ankle joint as well as missing parts of the foot. The extent of
ankle joint deficiency may range from a relatively normal ankle to a very unstable,
abnormally-shaped ankle with limited mobility. In normal anatomy, the fibula contributes
to the stability of the ankle. The end of the fibula can be felt as a large bump on the
lateral sides of our ankles, called the lateral malleolus. Children with fibular hemimelia
are missing part or all of their fibula and this bump may be completely missing. When
the lateral malleolus is present, it buttresses the talus (ankle bone) and prevents it from
coming out of the joint. When it is missing, this stabilizing effect is absent. The ankle
joint is primarily made up of the lower end of the tibia, which is often severely deformed
as well in patients with fibular hemimelia. The deformity comes from a bend in the main
shaft of the tibia and forms a knuckle-like appearance of the bone (often with a skin
dimple over the knuckle).
A more subtle deformity of the ankle is one that is often not visible on the x-ray:
malorientation of the joint itself. This malorientation points the foot towards the outside
(lateral) and down (posterior), creating what is called an equinovalgus deformity. This
deformity was thought to be due to tight soft tissues (such as the Achilles tendon) as
well as the presence of a fibrous remnant of the fibular bone, known as an anlage. In
1996, Dr. Paley was the first to identify that the equinovalgus deformity was not caused
by tight muscles or the anlage, but rather, it is due to malorientation of the joint itself,
which is invisible to x-ray since the joint is mostly made of cartilage at a young age. His
findings have since been confirmed by both MRI and open surgical examination. This
discovery led to the development of the SUPERankle procedure, a comprehensive
surgical treatment for reconstructing the foot and ankle of patients with fibular hemimelia
(SUPER is an acronym for Systematic Utilitarian Procedure for Extremity
Reconstruction).
For more information, see SUPERankle.
Fun in physical therapy
In addition to ankle deformities, the foot in patients with FH may also have a deformity
between the talus (ankle) and calcaneus (heel bone). Normally, these two bones are
connected through the subtalar joint. The ankle joint moves the foot up and down and
the subtalar joint moves the foot side-to-side, which is important for walking on uneven
ground. The subtalar joint in fibular hemimelia is usually absent because the two bones
are fused. Despite fusion of the bones, side-to-side motion is present in FH due to an
abnormal, ball-and-socket shaping of the ankle joint. Therefore, the ankle joint functions
for both the ankle and subtalar joints. This fusion of function is called a subtalar
coalition. If the subtalar coalition connects the talus and calcaneus in a normal position
such that the heel is in line with the ankle bone, then it does not contribute to additional
deformity of the foot. If, however, this coalition is joined in an abnormal fashion, so that
it is tilted outwards (valgus) or inwards (varus) then it leads to additional deformity of the
foot and ankle. Dr. Paley was one of the first surgeons to recognize the contribution of
subtalar coalition deformities to fibular hemimelia which helped form the basis of the
SUPERankle procedure, which aims to correct these deformities.
The third element of the foot deformity is the absence of some of the toes, including the
foot metatarsal bones (the long bones that lead down to the toes). Normally, there are
five metatarsals and five toes, but in fibular hemimelia there may be more or less. Some
of the toes may be joined together (syndactyly) or separated. The big toe may also be
pointing inwards, away from the rest of the foot. This particular deformity is called a
delta metatarsal and requires a specialized operation to correct.
For more information, see Toe Reconstruction.
Knee Deformity
In patients with fibular hemimelia, the knee joint frequently has a valgus deformity
(knocked knee). This alignment can be related to the lower end of the femur or the
upper end of the tibia, or both. It is important to realign the knee during treatment of
fibular hemimelia. Most patients with FH will also have absent or deformed knee
ligaments. In particular, the anterior cruciate ligament (ACL) is often under-developed
(hypoplastic) or absent. No initial treatment for this is provided but ligament
reconstruction should be considered if the patient begins to develop problems of knee
instability. Children with deficient or absent cruciate ligaments often do very well and
can engage actively in various sports that other children their age can participate in.
