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This condition is normally discovered at birth. If other symptoms are present, a specific syndrome may be indicated. Diagnosis of a specific syndrome is based on family history, medical history, and a physical exam. Webbed toes are also known as "twin toes," "duck toes," "turkey toes" and "tiger toes."
Severity can vary. Most cases involve the second and third toes but any number of toes can be involved. In some cases the toes are joined part way while in some the webbing can extend right up to the nails. In some cases the entire toes, including the nails and bones, can be fused.
Webbed toes is the common name for syndactyly affecting the feet. It is characterised by the fusion of two or more digits of the feet. This is normal in many birds, such as ducks; amphibians, such as frogs; and mammals, such as kangaroos. In humans it is considered unusual, occurring in approximately one in 2,000 to 2,500 live births.
There are various levels of webbing, from partial to complete. For example, the rare Hose's civet, a viverrid endemic to northern Borneo, has partially webbed feet. Most commonly the second and third toes are webbed or joined by skin and flexible tissue. This can reach either part way up or nearly all the way up the toe.
Syndactyly can be simple or complex.
- In simple syndactyly, adjacent fingers or toes are joined by soft tissue.
- In complex syndactyly, the bones of adjacent digits are fused. The kangaroo exhibits complex syndactyly.
Syndactyly can be complete or incomplete.
- In complete syndactyly, the skin is joined all the way to the tip of the involved digits.
- In incomplete syndactyly, the skin is only joined part of the distance to the tip of the involved digits.
Complex syndactyly occurs as part of a syndrome (such as Apert syndrome) and typically involves more digits than simple syndactyly.
Fenestrated syndactyly means the skin is joined for most of the digit but in a proximal area there is gap in the syndactyly with normal skin. This type of syndactyly is found in amniotic band syndrome.
Simple syndactyly can be full or partial, and is present at birth (congenital). In early human fetal development, webbing (syndactyly) of the toes and fingers is normal. At about 6 weeks of gestation, apoptosis takes place due to a protein named sonic hedgehog, also known as SHH, which dissolves the tissue between the fingers and toes, and the webbing disappears. In some fetuses, this process does not occur completely between all fingers or toes and some residual webbing remains.
Syndactyly (from Greek συν- meaning "together" and δακτυλος meaning "finger") is a condition wherein two or more digits are fused together. It occurs normally in some mammals, such as the siamang and diprotodontia, but is an unusual condition in humans.
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
- Possible conjoined toes or metatarsals
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. Males are affected twice as often as females in most series.
The cause of in-toeing can be differentiated based on the location of the disalignment. The variants are:
- Curved foot (metatarsus adductus)
- Twisted shin (tibial torsion)
- Twisted thighbone (femoral anteversion)
Diplopodia is a congenital anomaly in tetrapods that involves duplication of elements of the foot on the hind limb. It comes from the Greek roots diplo = "double" and pod = "foot". Diplopodia is often found in conjunction with other structural abnormalities and can be lethal. It is more extreme than polydactyly, the presence of extra digits.
The tibia or lower leg slightly or severely twists inward when walking or standing.
Specific types of additional body parts include:
- Accessory breast – one or more additional breasts
- Accessory spleen – one or more additional spleens
- Cervical rib – an additional rib
- Diphallia - Having two penes/penises.
- Hermaphroditism – having both sexes' sex organs
- Hyperdontia – additional teeth
- Pelvic digit – a bony growth in the soft tissue of the pelvic region
- Polycephaly – an extra head
- Polydactyly – additional fingers or toes
- Polymelia — an extra arm or leg.
- Polyorchidism – having three or more testicles
- Supernumerary bones – these additional bones are fairly common, particularly in the feet, and are frequently mistaken for fractures on x-rays.
- Supernumerary kidney – a third kidney
- Supernumerary nipples – an additional nipple
- Supernumerary phantom limbs – where the brain acts as though a limb were there, but it is not.
- Syndactyly – webbing between the fingers or toes
- Uterus didelphys – two vaginal canals and/or uteri
On babies, webbed neck may look like loose folds of skin on the neck. As the child grows, the skin may stretch out to look like there is little or no neck.
Brachymetatarsia or hypoplastic metatarsal is a condition in which there is one or more abnormally short or overlapping toes metatarsals. This condition may result due to a congenital defect or it may be an acquired condition. It most frequently involves the fourth metatarsal. If it involves the first metatarsal, the condition is known as Morton's syndrome. Treatment is via a number of differing surgical procedures.
The constriction ring syndrome is a complex collection of asymmetric congenital anomalies, in which no two cases are exactly alike. This is why a classification is difficult to make.
The most widely used classification system was proposed by Patterson. This classification system is based on the severity of the syndrome and is useful because, the different types require different treatments. Other clinicians have amended this scheme by separating the depth of the ring into mild, moderate, severe and amputation and by further defining the presence or absence of lymphedema or soft tissue loss distal to the ring. Expanding over subdivision in depth of the clefts for every classification is not necessary because the principles of treatment and technique for correction are the same
There are four categories:
1. simply constriction rings
2. constriction rings associated with deformity of the distal part with or without lymphedema
3. constriction rings associated with acrosyndactyly
4. uterine amputation
Patterson divided the constriction ring associated with acrosyndactyly into three types:
- Type I: conjoined fingertips with well-formed webs of the proper depth
- Type II: the tips of the digits are joined, but web formation is not complete
- Type III: joined tips, sinus tracts between digits and absent webs
Patterson I;
There are simple constriction rings which are strands most commonly around the distal extremities as fingers and toes. In general, the thumb is not likely to be affected by a constriction ring because the fetus typically holds the thumb in tight adduction flexion, making entanglement with strands less likely. These malformations need to be surgically removed which must be executed in different stages and can done by different techniques (see also treatment).
Patterson II;
The CRS involves strands which obstruct the lymphatic vessels and thus causing fluid retention, distal of the affected extremity. This utters itself with swollen parts distal of the constriction.
Patterson III;
In this form there is a complex form of syndactyly named acrosyndactyly, the fingers (or toes) were initially separated but due to the constriction they are formed back together. Sometimes multiple fingers can be involved. The distal fusion between digits or toes never initially involves a skeletal coalition. The digits are usually hypoplastic if multiple digits are involved. When the constriction cuts of the blood supply to the fingers, the fingers can form a peak with the most palmar digit being the index finger. Normal neurovascular bundles are not present in the distal parts. Hands with fused fingers need to be released in phases to preserve the distal blood supply.
Paterson IV;
One of the most severe consequence of constriction strains is probably intrauterine amputations, this is where the constriction goes as deep as the bone and cuts of the blood supply of the proximal extremity. The result will be that the developing toe or finger will become ischemic and will fall of. Because the end result is a transverse amputation that cuts off the vascular supply to the developing extremity, the actual constriction ring is not seen
This can result in different outcomes;
- complete resorption; this is the most common form of amputation. In this form the amputated digit is completely resorbed during intrauterine development and therefore the amputated digit can’t be found.
- recovery of the digit; the digit is recovered with the placenta during delivery.
- engraftment elsewhere; the amputated digit can be, in rare cases, engrafted somewhere on the fetus.
Intrauterine death;
In extremely rare cases a strain can form around the umbilical cord and cut off the blood supply to the fetus which will result in intrauterine death.
Malformation associated with constriction ring syndrome;
The percentage of associated anomalies varies from 40% to as high as 80%
Constriction ring deformities are as common on the lower extremity as on the upper, almost all of these involve the musculoskeletal system, with clubbed feet being the most common in up to 30% of reported cases
Large reported series reveal an incidence between 5% and 15% of craniofacial malformations with clefting of the lip or palate.
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." 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 (Ilizarov apparatus) are costly and associated with residual deformity.
Supernumerary body parts are most commonly a congenital disorder involving the growth of an additional part of the body and a deviation from the body plan. Body parts may be easily visible or hidden away, such as internal organs.
Many additional body parts form by the same process as conjoined twins: the zygote begins to split but fails to completely separate. This condition may also be a symptom of repeated occurrences of continuous inbreeding in a genetic line.
Congenital causes include: Aarskog syndrome, Albright's hereditary osteodystrophy, and Apert syndrome. Can be caused by a trauma, although the exact mechanism is not known.
The most common symptom experienced due to Morton's toe is callusing and/or discomfort of the ball of the foot at the base of the second toe. The first metatarsal head would normally bear the majority of a person's body weight during the propulsive phases of gait, but because the second metatarsal head is farthest forward, the force is transferred there. Pain may also be felt in the arch of the foot, at the ankleward end of the first and second metatarsals.
In shoe-wearing cultures, Morton's toe can be problematic. For instance, wearing shoes with a profile that does not accommodate a longer second toe may cause foot pain. A small (80-person) study found no statistically significant difference in the frequency of longer second toes between people with and without ingrown toenails, but tight and ill-fitting shoes are generally considered to increase the risk of ingrown toenails, and shoes are often too tight on the toes.
The differential diagnosis includes;
- Symbrachydactyly
- Chorionic villus sampling
- Congenital amputations
- Hypoplasias of hand, digit, thumb
- Adams-Oliver syndrome
- ADAM complex
ADAM Complex; CRS is sometimes mislabeled as ADAM complex. ADAM is an abbreviation for Amniotic Deformity, Adhesions Mutilations. CRS is the malformation due to a constriction ring around mostly a limb. ADAM-complex is the association of limb defects (caused by constriction rings) and certain craniofacial clefts
“Adams-Oliver syndrome is often mislabeled as CRS and consists of cutis aplasia of the scalp in which a longitudinal defect can vary in size and can often be associated with full-thickness skullcap loss. The distal digital or toe hypoplasia-aplasia is often confused with CRS. Constriction rings with or without edema are not present. The digital or toe hypoplasia-aplasia usually contains diminutive nails or nail folds”.
Morton's toe is the condition of a shortened first metatarsal in relation to the second metatarsal. It is a type of brachymetatarsia.
The metatarsal bones behind the toes vary in relative length. For most feet, a smooth curve can be traced through the joints at the bases of the toes. But in Morton's foot, the line has to bend more sharply to go through the base of the big toe, as shown in the diagram.
This is because the first metatarsal, behind the big toe, is short compared to the second metatarsal, next to it. The longer second metatarsal puts the joint at the base of the second toe (the second metatarsal-phalangeal, or MTP, joint) farther forward.
If the big toe and the second toe are the same length (as measured from the MPT joint to the tip, including only the phalanges), then the second toe will protrude farther than the big toe, as shown in the photo. If the second toe is shorter than the big toe, the big toe may still protrude the farthest, or there may be little difference, as shown in the X-ray.
It is a feature of Turner syndrome (only found in girls) and Noonan syndrome, as well as the rarer Klippel-Feil syndrome, or Diamond-Blackfan Anemia
Hammer toe most frequently results from wearing poorly fitting shoes that can force the toe into a bent position, such as excessively high heels or shoes that are too short or narrow for the foot. Having the toes bent for long periods of time can cause the muscles in them to shorten, resulting in the hammer toe deformity. This is often found in conjunction with bunions or other foot problems (e.g., a bunion can force the big toe to turn inward and push the other toes). It can also be caused by muscle, nerve, or joint damage resulting from conditions such as osteoarthritis, rheumatoid arthritis, stroke, Charcot–Marie–Tooth disease, complex regional pain syndrome or diabetes. Hammer toe can also be found in Friedreich's ataxia (GAA trinucleotide repeat).
Hypophalangism is a congenital absence of one or more phalanges (bones of the fingers and toes).
The symptoms of bunions include irritated skin around the bunion, pain when walking, joint redness and pain, and possible shift of the big toe toward the other toes. Blisters may form more easily around the site of the bunion as well.
The presence of bunions can lead to difficulties finding properly fitting footwear and may force a person to buy a larger size shoe to accommodate the width the bunion creates. If the bunion deformity becomes severe enough, the foot can hurt in different places even without the constriction of shoes. It is then considered as being a mechanical function problem of the forefoot.
An equinovalgus is a deformity of the human foot. It may be a flexible deformity or a fixed deformity. Equino- means plantarflexed (as in standing on one's toes), and valgus means that the base of the heel is rotated away from the midline of the foot (eversion) and abduction of foot. This means that the patient is placing his/her weight on the medial border of the foot, and the arch of the foot is absent, which distorts the foot's normal shape.
Equinovalgus mostly occurs due to tightness of plantar flexors (calf muscles) and peroneus group of muscles.
The cranium consists of three main sections including the base of the cranium (occipital bone), the face (frontal bone), and the top (parietal bones) and sides (temporal bone) of the head. Most of the bones of the cranium are permanently set into place prior to birth. However, the temporal and parietal bones are separated by sutures, which remain open, allowing the head to slightly change in shape during childbirth. The cranial sutures eventually close within the first couple of years following birth, after the brain has finished growing.
In individuals with SCS, the coronal suture separating the frontal bones from the parietal bones, closes prematurely (craniosynostosis), occasionally even before birth. If the coronal suture closes asymmetrically or unilaterally, then the face and forehead will form unevenly, from side-to-side. People with SCS have pointy, tower-like heads because their brain is growing faster than their skull, resulting in increased intracranial pressure (ICP) and causing the top of the head and/or forehead to bulge out to allow for brain growth. The face appears uneven, particularly in the areas of the eyes and cheeks, and the forehead appears wide and tall.
Because of the abnormal forehead, there is less space for the normal facial features to develop. This results in shallow eye sockets and flat cheekbones. The shallow eye sockets make the eyes more prominent or bulging and cause the eyes to be more separated than normal (hypertelorism). The underdeveloped eye sockets, cheekbones, and lower jaw cause the face to appear flat. Furthermore, the minor downward slant of the eyes along with the drooping eyelids (ptosis) adds to the overall unevenness of the face.
A hammer toe or contracted toe is a deformity of the proximal interphalangeal joint of the second, third, or fourth toe causing it to be permanently bent, resembling a hammer. Mallet toe is a similar condition affecting the distal interphalangeal joint.
Claw toe is another similar condition, with dorsiflexion of the proximal phalanx on the lesser metatarsophalangeal joint, combined with flexion of both the proximal and distal interphalangeal joints. Claw toe can affect the second, third, fourth, or fifth toes.