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The condition has an incidence of 1 in every 500 live births. Postaxial hand polydactyly is a common isolated disorder in African black children, and autosomal dominant transmission is suspected. Postaxial polydactyly is more frequent in native Africans living in the Eastern and Central than the Caucasians and Mongoloids and is more frequent in male children. In contrast, postaxial polydactyly seen in white children is usually syndromic and associated with an autosomal recessive transmission. One study by Finley et al. combined data from Jefferson County, Alabama, United States and Uppsala County, Sweden. This study showed incidence of all types of polydactyly to be 2.3 per 1000 in Caucasian males, 0.6 per 1000 in Caucasian females, 13.5 per 1000 in African males, and 11.1 per 1000 in African females.
Polydactyly or polydactylism (), also known as hyperdactyly, is a congenital physical anomaly in humans, dogs, and cats having supernumerary fingers or toes.
Polydactyly is the opposite of oligodactyly (fewer fingers or toes).
Environmental influences may also cause, or interact with genetics to produce, orofacial clefting. An example of how environmental factors might be linked to genetics comes from research on mutations in the gene "PHF8" that cause cleft lip/palate (see above). It was found that PHF8 encodes for a histone lysine demethylase, and is involved in epigenetic regulation. The catalytic activity of PHF8 depends on molecular oxygen, a fact considered important with respect to reports on increased incidence of cleft lip/palate in mice that have been exposed to hypoxia early during pregnancy. In humans, fetal cleft lip and other congenital abnormalities have also been linked to maternal hypoxia, as caused by e.g. maternal smoking, maternal alcohol abuse or some forms of maternal hypertension treatment. Other environmental factors that have been studied include: seasonal causes (such as pesticide exposure); maternal diet and vitamin intake; retinoids — which are members of the vitamin A family; anticonvulsant drugs; nitrate compounds; organic solvents; parental exposure to lead; alcohol; cigarette use; and a number of other psychoactive drugs (e.g. cocaine, crack cocaine, heroin).
Current research continues to investigate the extent to which folic acid can reduce the incidence of clefting.
Women in sports such as association football, basketball, and tennis are significantly more prone to ACL injuries than men. The discrepancy has been attributed to gender differences in anatomy, general muscular strength, reaction time of muscle contraction and coordination, and training techniques.
Gender differences in ACL injury rates become evident when specific sports are compared. A review of NCAA data has found relative rates of injury per 1000 athlete exposures as follows:
- Men's basketball 0.07, women's basketball 0.23
- Men's lacrosse 0.12, women's lacrosse 0.17
- Men's football 0.09, women's football 0.28
The highest rate of ACL injury in women occurred in gymnastics, with a rate of injury per 1000 athlete exposures of 0.33
Of the four sports with the highest ACL injury rates, three were women's – gymnastics, basketball and soccer.
According to recent studies, female athletes are two to eight times more likely to strain their anterior cruciate ligament (ACL) in sports that involve cutting and jumping as compared to men who play the same particular sports (soccer, basketball, and volleyball). Differences between males and females identified as potential causes are the active muscular protection of the knee joint, the greater Q angle putting more medial torque on the knee joint, relative ligament laxity caused by differences in hormonal activity from estrogen and relaxin, intercondylar notch dimensions, and muscular strength.
There is still some discussion on whether FND is sporadic or genetic. The majority of FND cases are sporadic. Yet, some studies describe families with multiple members with FND. Gene mutations are likely to play an important role in the cause. Unfortunately, the genetic cause for most types of FND remains undetermined.
OAFNS is a combination of FND and oculo-auriculo-vertebral spectrum (OAVS).
The diagnosis of OAVS is based on the following facial characteristics: microtia (underdeveloped external ear), preauricular tags, facial asymmetry, mandibular hypoplasia and epibulbar lipodermoids (benign tumor of the eye which consists of adipose and fibrous tissue).
There still remains discussion about the classification and the minimal amount of characteristics. When someone presents with FND and the characteristics of OAVS, the diagnosis OAFNS may be made.
As the incidence of OAFNS is unknown, there are probably a lot of children with mild phenotypes that aren’t being diagnosed as being OAFNS.
The cause of OAFNS is unknown, but there are some theories about the genesis. Autosomal recessive inheritance is suggested because of a case with two affected siblings and a case with consanguineous parents. However, another study shows that it is more plausible that OAFNS is sporadic.
It is known that maternal diabetes plays a role in developing malformations of craniofacial structures and in OAVS. Therefore, it is suggested as a cause of OAFNS. Folate deficiency is also suggested as possible mechanism.
Low-dose CT protocols should be considered in diagnosing children with OAFNS.
Because the cause of facial clefts still is unclear, it is difficult to say what may prevent children being born with facial clefts. It seems that folic acid contributes to lowering the risk of a child being born with a facial cleft.
Radial dysplasia, also known as radial club hand or radial longitudinal deficiency, is a congenital difference occurring in a longitudinal direction resulting in radial deviation of the wrist and shortening of the forearm. It can occur in different ways, from a minor anomaly to complete absence of the radius, radial side of the carpal bones and thumb. Hypoplasia of the distal humerus may be present as well and can lead to stiffnes of the elbow. Radial deviation of the wrist is caused by lack of support to the carpus, radial deviation may be reinforced if forearm muscles are functioning poorly or have abnormal insertions. Although radial longitudinal deficiency is often bilateral, the extent of involvement is most often asymmetric.
The incidence is between 1:30,000 and 1:100,000 and it is more often a sporadic mutation rather than an inherited condition. In case of an inherited condition, several syndromes are known for an association with radial dysplasia, such as the cardiovascular Holt-Oram syndrome, the gastrointestinal VATER syndrome and the hematologic Fanconi anemia and TAR syndrome. Other possible causes are an injury to the apical ectodermal ridge during upper limb development, intrauterine compression, or maternal drug use (thalidomide).
The overall prognosis is excellent in most cases. Most children with Adams–Oliver syndrome can likely expect to have a normal life span. However, individuals with more severe scalp and cranial defects may experience complications such as hemorrhage and meningitis, leading to long-term disability.
Cleft lip and palate occurs in about 1 to 2 per 1000 births in the developed world.
Rates for cleft lip with or without cleft palate and cleft palate alone varies within different ethnic groups.
The highest prevalence rates for (CL ± P) are reported for Native Americans and Asians. Africans have the lowest prevalence rates.
- Native Americans: 3.74/1000
- Japanese: 0.82/1000 to 3.36/1000
- Chinese: 1.45/1000 to 4.04/1000
- Caucasians: 1.43/1000 to 1.86/1000
- Latin Americans: 1.04/1000
- Africans: 0.18/1000 to 1.67/1000
Rate of occurrence of CPO is similar for Caucasians, Africans, North American natives, Japanese and Chinese. The trait is dominant.
It caused about 4,000 deaths globally in 2010 down from 8,400 in 1990.
Prevalence of "cleft uvula" has varied from .02% to 18.8% with the highest numbers found among Chippewa and Navajo and the lowest generally in Africans.
High school athletes are at increased risk for ACL tears when compared to non-athletes. This risk increases with certain types of sports. Among high school girls, the sport with the highest risk of ACL tear is soccer, followed by basketball and lacrosse. The highest risk sport for boys was basketball, followed by lacrosse and soccer. Children and young athletes may benefit from early surgical reconstruction after ACL injury. Young athletes who have early surgical reconstruction of their torn ACL are more likely to return to their previous level of athletic ability when compared to those who underwent delayed surgery or nonoperative treatment. They are also less likely to experience instability in their knee if they undergo early surgery.
A facial cleft is an opening or gap in the face, or a malformation of a part of the face. Facial clefts is a collective term for all sorts of clefts. All structures like bone, soft tissue, skin etc. can be affected. Facial clefts are extremely rare congenital anomalies. There are many variations of a type of clefting and classifications are needed to describe and classify all types of clefting. Facial clefts hardly ever occur isolated; most of the time there is an overlap of adjacent facial clefts.
AOS is a rare genetic disorder and the annual incidence or overall prevalence of AOS is unknown. Approximately 100 individuals with this disorder have been reported in the medical literature.
The aging process has three distinct components: physiologic degeneration, extrinsic damage (nosocusis), and intrinsic damage (sociocusis). These factors are superimposed on a genetic substrate, and may be overshadowed by general age-related susceptibility to diseases and disorders.
Hearing loss is only weakly correlated with age. In preindustrial and non-industrial societies, persons retain their hearing into old age. In the Framingham cohort study, only 10% of the variability of hearing with age could be explained by age-related physiologic deterioration. Within family groups, heredity factors were dominant; across family groups, other, presumably sociocusis and nosocusis factors were dominant.
- Heredity: factors like early aging of the cochlea and susceptibility of the cochlea for drug insults are genetically determined.
- Oxidative stress
- General inflammatory conditions
Differential considerations include similar rotator cuff denervation syndromes such as Parsonage–Turner syndrome, and compression of the suprascapular nerve at the spinoglenoid notch in which the infraspinatus, and to a lesser degree supraspinatus is involved.
Gene based therapy is being studied. In June 2015, BioMarin announced positive results of their Phase 2 study, stating that 10 children experienced a mean increase of 50% in their annualized growth velocity.
Achondroplasia is one of 19 congenital conditions with similar presentations, such as osteogenesis imperfecta, multiple epiphyseal dysplasia tarda, achondrogenesis, osteopetrosis, and thanatophoric dysplasia. This makes estimates of prevalence difficult, with changing and subjective diagnostic criteria over time. One detailed and long-running study in the Netherlands found that the prevalence determined at birth was only 1.3 per 100,000 live births. Another study at the same time found a rate of 1 per 10,000.
Nosocusis factors are those that can cause hearing loss, which are not noise-based and separate from pure presbycusis. They may include:
- Ototoxic drugs: Ingestion of ototoxic drugs like aspirin may hasten the process of presbycusis.
- vascular degeneration
- Atherosclerosis: May diminish vascularity of the cochlea, thereby reducing its oxygen supply.
- Dietary habits: Increased intake of saturated fat may accelerate atherosclerotic changes in old age.
- Smoking: Is postulated to accentuate atherosclerotic changes in blood vessels aggravating presbycusis.
- Diabetes: May cause vasculitis and endothelial proliferation in the blood vessels of the cochlea, thereby reducing its blood supply.
- Hypertension: causes potent vascular changes, like reduction in blood supply to the cochlea, thereby aggravating presbycusis.
However, a recent study found that diabetes, atherosclerosis and hypertension had no correlation to presbycusis, suggesting that these are nosocusis (acquired hearing loss) factors, not intrinsic factors.
In 2010 national statistics was done by Agency for Healthcare Research and Quality for posterior cruciate ligaments injuries. They found that 463 patients were discharge for having some type of PCL injury. The 18- to 44-year-old age group was found to have the highest injuries reported (figure 1). One reason why this age group consists of the majority of injuries to the PCL is because people are still very active in sports at this age. Men were also reported having more injuries to the PCL (figure 3).
Diagnosis is usually suspected by clinical history and confirmed by MRI, in which edema of the teres minor is seen, with variable involvement of the deltoid. The circumflex humeral artery may also be compressed. Before the advent of MRI, compression of this vessel on angiography used to be the mechanism of diagnosis, although this is no longer done as it is an invasive procedure.
Atrophy can occur in cases of chronic nerve impingement. It can be associated with a glenoid labral cyst, with the cyst also reflecting injury of the glenoid labrum.
This syndrome appears to be inherited in an autosomal dominant fashion.
Molecular analyses suggest that the causative mutations cause a truncation of the protein. These mutations result in the loss of PEST sequence in the protein. This loss is associated with a prolonged half life of the protein.
Mutations in Notch 3 were found to be associated with this syndrome.
Despite its wasting and at times long-lasting effects, most cases resolve themselves and recovery is usually good in 18–24 months, depending on how old the person in question is. For instance, a six-year-old could have brachial neuritis for only around 6 months, but a person in their early fifties could have it for over 3 years.
It may be that a genetic tendency to develop otosclerosis is inherited by some people. Then a trigger, such as a viral infection (like measles), actually causes the condition to develop.
Otosclerosis or otospongiosis is an abnormal growth of bone near the middle ear. It can result in hearing loss. The term otosclerosis is something of a misnomer. Much of the clinical course is characterised by lucent rather than sclerotic bony changes, hence it is also known as otospongiosis.
The lateral meningocele syndrome is a very rare skeletal disorder with facial anomalies, hypotonia and meningocele-related neurologic dysfunction.