Fibular hemimelia | |
---|---|
Other names | Longitudinal fibular deficiency |
Fibula hemimelia in patient affecting right side | |
Specialty | Medical genetics, orthopedics |
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. Fibular hemimelia often causes severe knee instability due to deficiencies of the ligaments. Severe forms of fibula hemimelia can result in a malformed ankle with limited motion and stability. Fusion or absence of two or more toes are also common. [3] 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 (Ilizarov apparatus), are costly and associated with residual deformity. [4]
Characteristics are:[ citation needed ]
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). It may also present as bilateral (affecting both legs). Paraxial fibular hemimelia is the most common manifestation in which only the postaxial portion of the limb is affected. It is commonly seen as a 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.[ clarification needed ] [5]
The cause of fibular hemimelia is unclear. Purportedly, there have been some incidents of genetic distribution in a family;[ citation needed ] 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. [6]
In an experimental mouse model, change in the expression of a homeobox gene led to similar, but bilateral, fibular defects. [7]
Polydactyly or polydactylism, also known as hyperdactyly, is an anomaly in humans and animals resulting in supernumerary fingers and/or toes. Polydactyly is the opposite of oligodactyly.
Toes are the digits of the foot of a tetrapod. Animal species such as cats that walk on their toes are described as being digitigrade. Humans, and other animals that walk on the soles of their feet, are described as being plantigrade; unguligrade animals are those that walk on hooves at the tips of their toes.
The ankle, or the talocrural region, or the jumping bone (informal) is the area where the foot and the leg meet. The ankle includes three joints: the ankle joint proper or talocrural joint, the subtalar joint, and the inferior tibiofibular joint. The movements produced at this joint are dorsiflexion and plantarflexion of the foot. In common usage, the term ankle refers exclusively to the ankle region. In medical terminology, "ankle" can refer broadly to the region or specifically to the talocrural joint.
Coxa vara is a deformity of the hip, whereby the angle between the head and the shaft of the femur is reduced to less than 120 degrees. This results in the leg being shortened and the development of a limp. It may be congenital and is commonly caused by injury, such as a fracture. It can also occur when the bone tissue in the neck of the femur is softer than normal, causing it to bend under the weight of the body. This may either be congenital or the result of a bone disorder. The most common cause of coxa vara is either congenital or developmental. Other common causes include metabolic bone diseases, post-Perthes deformity, osteomyelitis, and post traumatic. Shepherd's Crook deformity is a severe form of coxa vara where the proximal femur is severely deformed with a reduction in the neck shaft angle beyond 90 degrees. It is most commonly a sequela of osteogenesis imperfecta, Paget's disease, osteomyelitis, tumour and tumour-like conditions.
In medicine, the Ilizarov apparatus is a type of external fixation apparatus used in orthopedic surgery to lengthen or to reshape the damaged bones of an arm or a leg; used as a limb-sparing technique for treating complex fractures and open bone fractures; and used to treat an infected non-union of bones, which cannot be surgically resolved. The Ilizarov apparatus corrects angular deformity in a leg, corrects differences in the lengths of the legs of the patient, and resolves osteopathic non-unions; further developments of the Ilizarov apparatus progressed to the development of the Taylor Spatial Frame.
A Lisfranc injury, also known as Lisfranc fracture, is an injury of the foot in which one or more of the metatarsal bones are displaced from the tarsus.
Proximal femoral focal deficiency (PFFD), also known as Congenital Femoral Deficiency (CFD), is a rare, non-hereditary birth defect that affects the pelvis, particularly the hip bone, and the proximal femur. The disorder may affect one side or both, with the hip being deformed and the leg shortened.
Dysmelia is a congenital disorder of a limb resulting from a disturbance in embryonic development.
Congenital amputation is birth without a limb or limbs, or without a part of a limb or limbs.
A high ankle sprain, also known as a syndesmotic ankle sprain (SAS), is a sprain of the syndesmotic ligaments that connect the tibia and fibula in the lower leg, thereby creating a mortise and tenon joint for the ankle. High ankle sprains are described as high because they are located above the ankle. They comprise approximately 15% of all ankle sprains. Unlike the common lateral ankle sprains, when ligaments around the ankle are injured through an inward twisting, high ankle sprains are caused when the lower leg and foot externally rotates.
Pigeon toe, also known as in-toeing, is a condition which causes the toes to point inward when walking. It is most common in infants and children under two years of age and, when not the result of simple muscle weakness, normally arises from underlying conditions, such as a twisted shin bone or an excessive anteversion resulting in the twisting of the thigh bone when the front part of a person's foot is turned in.
Dror Paley is a Canadian-trained orthopedic surgeon, who specializes in limb lengthening and deformity correction procedures.
Ectrodactyly, split hand, or cleft hand involves the deficiency or absence of one or more central digits of the hand or foot and is also known as split hand/split foot malformation (SHFM). The hands and feet of people with ectrodactyly (ectrodactyls) are often described as "claw-like" and may include only the thumb and one finger with similar abnormalities of the feet.
Hemimelia is a birth defect consisting in unilateral or bilateral underdevelopment of the distal part of the lower or upper limb. The affected bone may be shortened or not develop at all.
Constriction ring syndrome (CRS) is a congenital disorder with unknown cause. Because of the unknown cause there are many different, and sometimes incorrect names. It is a malformation due to intrauterine bands or rings that give deep grooves in, most commonly, distal extremities like fingers and toes. In rare cases the constriction ring can form around other parts of the fetus and cause amputation or even intrauterine death. The anatomy proximal to the site of constriction is developmentally normal. CRS can be associated with other malformations with club foot being most common. The precise configuration of the bands, lymphedema, and character of the amputations are not predictable and vary with each individual patient. Also, more than one extremity is usually affected, and it is rare for only one ring to present as an isolated malformation with no other manifestation of this syndrome.
Liam Bevan Malone is a former New Zealand para-athlete, primarily competing in sprint events. He represented New Zealand at the 2016 Summer Paralympics in Rio de Janeiro, where he won gold medals in the men's 200 metres T44 and 400 metres T44, and the silver medal in the men's 100 metres T44.
Ulnar dimelia, also referred to simply as mirror hand, is a very rare congenital disorder characterized by the absence of the radial ray, duplication of the ulna, duplication of the carpal, metacarpal, and phalanx bones, and symmetric polydactyly. In some cases surgical amputation is performed to remove the duplicate carpals, metacarpals and phalanges. As of 2015, approximately 70 cases have been recorded in the medical literature.
Hecht Scott syndrome is a rare genetic disease that causes congenital limb formation. The main characterisation is the aplasia or hypoplasia of bones of the limb. It is currently presenting in less than 1 in 1,000,000 newborns. It has been known to be more commonly present in males. It was first diagnosed in 2005 by Courtens et al. who recognised the malformations with his present case and four others that were similarly described in literature.
Grant Manzoney is an Australian Paralympic badminton player. He competed at the 2020 Summer Paralympics where badminton made its Paralympics debut.
Van Den Berghe Dequeker syndrome, also known as ulnar hypoplasia-split foot syndrome is a very rare congenital limb malformation syndrome which is characterized by severe ulnar hypoplasia, absence of the index to pinky finger in both hands, and split-foot.