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Webbed toes in humans are a purely cosmetic condition. This condition does not impair the ability to perform any activity, including walking, running, or swimming. Depending on the severity and structure of the webbing, there can be some minor consequences.
People with more severe webbed toes may have a slight disadvantage for activities that benefit from prehensile toes, due to the toes being unable to split or move laterally. Although not scientifically proven, some believe that this condition can possibly allow for a slight advantage, specifically, in athletics. Considering your big toe is a main source for balance, having your second and third toe webbed could virtually be seen as having two big toes. Thus, allowing for better balance in athletics such as running or dance.
Psychological stress may arise from the fear of negative reactions to this condition from people who do not have webbed toes, particularly in severe cases where the nails are stuck visibly close together. Many people with webbed toes can physically feel the toes touching under the fused skin, which can cause psychological discomfort. This is due to the nerves of each toe fully developing and independent muscles working. In other cases where the toes are partially webbed, the webbing holds the separate tips of the toes against one another and prevents the muscles from spreading the toes apart, causing the toes and sometimes nails to press together.
However a disadvantage would be a difficulty in wearing flip-flops or other such footwear in warm countries. People with webbed toes may be unable to wear Toe socks or Vibram FiveFingers shoes. Difficulty navigating rough terrain barefoot, such as rocks at a beach is also common. In some cases the toes grow at different lengths causing the toes to buckle or bend and many people with severe webbed toes experience cramping in these toes due to the muscles and ligaments being strained.
A webbed neck, or pterygium colli deformity, is a congenital skin fold that runs along the sides of the neck down to the shoulders.
There are many variants.
The exact cause of the condition is unknown. In some cases, close family members may share this condition. In other cases, no other related persons have this condition. The scientific name for the condition is syndactyly, although this term covers both webbed fingers and webbed toes. Syndactyly occurs when apoptosis or programmed cell death during gestation is absent or incomplete. Webbed toes occur most commonly in the following circumstances:
- Syndactyly or Familial Syndactyly
- Down syndrome
It is also associated with a number of rare conditions, notably:
- Aarskog–Scott syndrome
- Acrocallosal syndrome
- Apert's syndrome
- Bardet-Biedl syndrome
- Carpenter syndrome
- Cornelia de Lange syndrome
- Edwards syndrome
- Jackson–Weiss syndrome
- Fetal hydantoin syndrome
- Miller syndrome
- Pfeiffer syndrome
- Smith-Lemli-Opitz syndrome
- Timothy syndrome
- Ectodermal Dysplasia
- Klippel-Feil Syndrome
Presence at birth is extremely rare and associated with other congenital anomalies such as proximal femoral focal deficiency, fibular hemimelia or anomalies in other part of the body such as cleidocranial dyastosis. The femoral deformity is present in the subtrochantric area where the bone is bent. The cortices are thickened and may be associated with overlying skin dimples. External rotation of the femur with valgus deformity of knee may be noted. This condition does not resolve and requires surgical management. Surgical management includes valgus osteotomy to improve hip biomechanics and length and rotational osteotomy to correct retroversion and lengthening.
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
Basilar invagination can be present at birth. If the condition develops after birth, it is usually the result of injury or diseases. If due to injury, about half the time it is caused by vehicle or bicycle accidents; 25% of the time by falls and 10% of the time by recreational activities such as diving accidents.
It also occurs in patients with bone diseases, such as osteomalacia, rheumatoid arthritis, Paget's disease, Ehlers-Danlos syndrome, Marfan syndrome, and osteogenesis imperfecta.
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 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 (e.g. Paget's disease of bone), post-Perthes deformity, osteomyelitis, and post traumatic (due to improper healing of a fracture between the greater and lesser trochanter). 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, Pagets disease, osteomyelitis, tumour and tumour-like conditions (e.g. fibrous dysplasia).
Coxa vara can happen in cleidocranial dysostosis.
Approximately 4% of the general population have an elongated styloid process, and of these about 4% give rise to the symptoms of Eagle syndrome. Therefore, the incidence of stylohyoid syndrome may be about 0.16%.
Patients with this syndrome tend to be between 30 and 50 years of age but it has been recorded in teenagers and in patients > 75 years old. It is more common in women, with a male:female ratio ~ 1:2.
The prevalence of Klippel–Feil syndrome is unknown due to the fact that there was no study done to determine the true prevalence.
Although the actual occurrence for the KFS syndrome is unknown, it is estimated to occur 1 in 40,000 to 42,000 newborns worldwide. In addition, females seem to be affected slightly more often than males.
There are two less common types of McGillivray syndromes are: Metopic synostosis (trigonocephaly). The metopic suture runs from your baby's nose to the sagittal suture. Premature fusion gives the scalp a triangular appearance. Another one is Lambdoid synostosis (posterior plagiocephaly). This rare form of craniosynostosis involves the lambdoid suture, which runs across the skull near the back of the head. It may cause flattening of your baby's head on the affected side. A misshapen head doesn't always indicate craniosynostosis. For example, if the back of your baby's head appears flattened, it could be the result of birth trauma or your baby's spending too much time on his or her back. This condition is sometimes treated with a custom-fit helmet that helps mold your baby's head back into a normal position.
Genetic counseling for VWS involves discussion of disease transmission in the autosomal dominant manner and possibilities for penetrance and expression in offspring. Autosomal dominance means affected parents have a 50% chance of passing on their mutated "IRF6" allele to a their child. Furthermore, if a cleft patient has lip pits, he or she has a ten times greater risk of having a child with cleft lip with or without cleft palate than a cleft patient who does not have lip pits. Types of clefting between parents and affected children are significantly associated; however, different types of clefts may occur horizontally and vertically within the same pedigree. In cases where clefting is the only symptom, a complete family history must be taken to ensure the patient does not have non-syndromic clefting.
The major treatment is surgery for most babies. The type of surgery which they would undergo differs from age and strength they have. The main reason of doing the surgery is to alleviate pressure on the brain, and create a space for brain developing and growing. It would improve infant’s appearance.
The first one is Traditional surgery. During surgery, they make an incision in the baby's scalp and cranial bones, and reshape the portion of the skull. Sometimes plates and screws, often made of material that is absorbed over time, are used to hold the bones in place. Surgery, which is performed during general anesthesia, usually takes hours.
After surgery, your baby remains in the hospital for at least three days. Some children may require a second surgery later because, the craniosynostosis recurs. Also, children with facial deformities often require future surgeries to reshape their faces.
Another one is Endoscopic surgery. This less invasive form of surgery isn't an option for everyone. But in certain cases, the surgeon may use a lighted tube (endoscope) inserted through one or two small scalp incisions over the affected suture. The surgeon then opens the suture to enable your baby's brain to grow normally. Endoscopic surgery usually takes about an hour, causes less swelling and blood loss, and shortens the hospital stay, often to one day after surgery.
The heterogeneity of the Klippel–Feil syndrome has made it difficult to outline the diagnosis as well as the prognosis classes for this disease. Because of this, it has complicated the exact explanation of the genetic cause of the syndrome.
The prognosis for most individuals with KFS is good if the disorder is treated early on and appropriately. Activities that can injure the neck should be avoided, as it may contribute to further damage. Other diseases associated with the syndrome can be fatal if not treated, or if found too late to be treatable.
Considerable force is needed to cause a cervical fracture. Vehicle collisions and falls are common causes. A severe, sudden twist to the neck or a severe blow to the head or neck area can cause a cervical fracture.
Sports that involve violent physical contact carry a risk of cervical fracture, including American football, Goalkeeper (association football), ice hockey, rugby, and wrestling. Spearing an opponent in football or rugby, for instance, can cause a broken neck. Cervical fractures may also be seen in some non-contact sports, such as gymnastics, skiing, diving, surfing, powerlifting, equestrianism, mountain biking, and motor racing.
Certain penetrating neck injuries can also cause cervical fracture which can also cause internal bleeding among other complications.
Hanging also incurs a cervical fracture.
There are approximately three hundred known cases of Carpenter Syndrome in the United States. Only 1 in 1 million live births will result in an infant affected by Carpenter Syndrome (RN, 2007).
Carpenter Syndrome is an autosomal recessive disease which means both parents must have the faulty genes in order to pass the disease onto their children. Even if both parents possess the faulty gene there is still only a twenty five percent chance that they will produce a child affected by the syndrome. Their children who do not have the disease will still be carriers and possess the ability to pass the disease onto their offspring if their spouse is also a carrier of the particular gene.
Saethre–Chotzen syndrome (SCS), also known as Acrocephalosyndactyly type III is a rare congenital disorder associated with craniosynostosis (premature closure of one or more of the sutures between the bones of the skull). This affects the shape of the head and face, resulting in a cone-shaped head and an asymmetrical face. Individuals with SCS also have droopy eyelids (ptosis), widely spaced eyes (hypertelorism), and minor birth defects of the hands and feet (syndactyly). In addition, individuals with more severe cases of SCS may have mild to moderate mental retardation or learning disabilities. Depending on the level of severity, some individuals with SCS may require some form of medical or surgical intervention. Most individuals with SCS live fairly normal lives, regardless of whether medical treatment is needed or not.
Midline cervical clefts are a rare congenital anomaly resulting from incomplete fusion during embryogenesis of the first and second branchial arches in the ventral midline of the neck. The condition presents as a midline cutaneous defect of the anterior neck with a skin projection or sinus, or as a subcutaneous erythematous fibrous cord. Surgical excision is the preferred treatment.
If there aren't neurological symptoms (such as difficulties moving, loss of sensation, confusion, etc.) and there is no evidence of pressure on the spinal cord, a conservative approach may be taken such as:
- Drugs, such as aspirin, without steroids to relieve inflammation
- Cervical traction, in which the neck is pulled along its length, thus relieving pressure on the spinal cord
- Using a neck collar or cervical-thoracic suit
If there is pressure on the spinal cord or life-threatening symptoms are present, surgery is recommended.
Scapular fracture is present in about 1% of cases of blunt trauma and 3–5% of shoulder injuries. An estimated 0.4–1% of bone fractures are scapular fractures.
The injury is associated with other injuries 80–90% of the time. Scapular fracture is associated with pulmonary contusion more than 50% of the time. Thus when the scapula is fractured, other injuries such as abdominal and chest trauma are automatically suspected. People with scapular fractures often also have injuries of the ribs, lung, and shoulder. Pneumothorax (an accumulation of air in the space outside the lung), clavicle fractures, and injuries to the blood vessels are among the most commonly associated injuries. The forces involved in scapular fracture can also cause tracheobronchial rupture, a tear in the airways. Fractures that occur in the scapular body are the type most likely to be accompanied by other injuries; other bony and soft tissue injuries accompany these fractures 80–95% of the time. Associated injuries can be serious and potentially deadly, and usually it is the associated injuries, rather than the scapular fracture, that have the greatest effect on the outcome. Scapular fractures can also occur by themselves; when they do, the death rate (mortality) is not significantly increased.
The mean age of people affected is 35–45 years.
SCS is the most common craniosynostosis syndrome and affects 1 in every 25,000 to 50,000 individuals. It occurs in all racial and ethnic groups, and affects males and females equally. If a parent carries a copy of the SCS gene mutation, then there is a 50% chance their child will also carry a copy of the gene mutation, in which case, the child may or may not show signs of SCS. There is also a 50% chance their child will have two working copies of the gene, and would therefore, not have SCS. If both parents carry a single copy of the SCS gene mutation, then there is a 25% chance their child will have two gene mutation copies (so child would develop severe SCS), a 25% chance their child would have two normal copies of the gene (so would be completely normal), and a 50% chance their child would carry one gene mutation copy and 1 normal copy (so child may or may not display SCS). In rare situations, two normal parents can have a child with SCS due to a "de novo" mutation. The exact cause of the "de novo" mutation is unknown, but it doesn't seem to be related to anything that the parents did or didn't do during the pregnancy. SCS due to a "de novo" mutation is so rare that the proportion of past cases is unknown.
Swan neck deformity is a deformed position of the finger, in which the joint closest to the fingertip is permanently bent toward the palm while the nearest joint to the palm is bent away from it (DIP flexion with PIP hyperextension). It is commonly caused by injury or inflammatory conditions like rheumatoid arthritis or sometimes familial (congenital, like Ehlers-Danlos syndrome).
Carpenter syndrome has been associated with mutations in the RAB23 gene, which is located on chromosome 6 in humans. Additionally, three key SNPs in the MEGF8 gene, located on chromosome 19 at 19q13.2, have been identified as primary causes of Carpenter syndrome.
Lip pits may be surgically removed either for aesthetic reasons or discomfort due to inflammation caused by bacterial infections or chronic saliva excretion, though spontaneous shrinkage of the lip pits has occurred in some rare cases. Chronic inflammation has also been reported to cause squamous-cell carcinoma. It is essential to completely remove the entire lip pit canal, as mucoid cysts can develop if mucous glands are not removed. A possible side effect of removing the lip pits is a loose lip muscle. Other conditions associated with VWS, including CL, CP, congenital heart defects, etc. are surgically corrected or otherwise treated as they would be if they were non-syndromic.
Swan neck deformity has many possible causes arising from the DIP, PIP, or even the MCP joints. In all cases, there is a stretching of the volar plate at the PIP joint to allow hyperextension, plus some damage to the attachment of the extensor tendon to the base of the distal phalanx that produces a hyperflexed mallet finger. Duck bill deformity is a similar condition affecting the thumb (which cannot have true swan neck deformity because it does not have enough joints).
Causes for a head tilt in domestic animals are either diseases of the central or peripheral vestibular system or relieving posture due to neck pain.
Known causes for head tilt in domestic animals include:
- "Encephalitozoon cuniculi" (or "E. cuniculi") infection in rabbits
- Inner ear infection
- Hypothyroidism in dogs
- Disease of the VIIIth cranial nerve the N. Vestibulocochlearis through trauma, infection, inflammation or neoplasia
- Disease of the brain stem through either stroke, trauma or neoplasia
- Damage to the vestibular organ due to toxicity, inflammation or impaired blood supply
- Geriatric vestibular syndrome in dogs