Jackson-Weiss Syndrome

Jackson-Weiss disorder (JWS) is an uncommon hereditary disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in a few patients craniosynostosis with facial anomalies. Hands are normal in affected patients. This hereditary disorder can too in some cases cause mental inability and crossed eyes.

Causes

Mutations within the FGFR2 gene cause Jackson-Weiss disorder. This gene gives instructions for making a protein called fibroblast growth factor receptor 2. Among its different functions, this protein signals immature cells to become bone cells during embryonic development. A mutation in a particular portion of the FGFR2 gene overstimulates signaling by the FGFR2 protein, which promotes the untimely combination of cranium bones and influences the development of bones within the feet.

Signs/symptoms

At birth, the bones of the cranium are not joined together; they close up as the child develops. In Jackson-Weiss disorder, the cranium bones connect together (fuse) as well early. This is called "craniosynostosis." This causes:
1. Misshapen skull
2.Widely spaced eyes
3.Bulging forehead
4.The unusually flat, underdeveloped middle area of the face (midface hypoplasia)

Another distinctive group of birth defects in Jackson-Weiss disorder is on the feet:

1. The big toes are short and wide
2. The big toes also bend away from the other toes
3. The bones of some toes may be fused together (called "syndactyly") or abnormally shaped
4. Individuals with Jackson-Weiss syndrome usually have normal hands, normal intelligence, and a normal lifespan.

Diagnosis

Diagnosis of Jackson-Weiss disorder is based on the birth defects present. There are other disorders that include craniosynostoses, such as Crouzon disorder or Apert disorder, but the foot abnormalities help distinguish Jackson-Weiss disorder. If there's a question, a genetic test might be done to help confirm the conclusion. The determination of Jackson–Weiss disorder in a person suspected of having the condition is done by means of the following:
1. Genetic testing
2. Clinical presentation

Treatment

A few of the birth defects display in Jackson-Weiss disorder can be adjusted or reduced by surgery. Treatment of craniosynostosis and facial anomalies is usually treated by specialists and therapists who specialize in head and neck disorders. Treatment for Jackson–Weiss disorder can be done through surgery for a few facial features and feet.  Secondary complications such as hydrocephalus or cognitive impairment can be deflected by means of prompt surgery.

Congenital Anomalies

Congenital anomaly is one of the main causes of physical disabilities, stillbirths and neonatal deaths. Congenital anomalies, moreover commonly referred to as birth defects, congenital disorders, congenital malformations, or congenital variations from the norm, are conditions of prenatal origin that are displayed at birth, possibly affecting an infant's well-being, development and/or survival. Congenital inconsistencies shift significantly in severity. A few congenital irregularities are related to spontaneous abortion, stillbirth, or death within the early postnatal period. Congenital anomalies are a driving cause of death among new-born children around the world, and hereditary factors play a major part in most of the cases. One of the biggest hereditary studies to be carried out in children has fair revealed 14 new qualities responsible for the developmental disorder.

Causes and risk factors

There are approximately 50% of all inherent anomalies cannot be connected to a particular cause, there are a few known hereditary, environmental and other causes or risk factors. However, given that most developmental disorders are exceptionally uncommon; numerous more pathogenic variations stay unknown. The Deciphering Developmental Disorders (DDD) study aimed to recognize developmental disorders in children and utilize genomic advances to progress diagnosing.

Prevention

Preventive public wellbeing measures work to diminish the frequency of certain congenital anomalies through the removal of risk components or the reinforcement of protective components. Important preventions are:

<>ensuring adolescent girls and mothers have a healthy diet including a wide variety of vegetables and fruit, and maintain a healthy weight; avoid harmful substances, particularly alcohol and tobacco

<>also avoidance of travel by pregnant women (and sometimes women of child-bearing age) to regions experiencing outbreaks of infections known to be associated with congenital anomalies;

<>vaccination, especially against the rubella virus, for children and women and many more.

Detection

Health care before and around the time of conception (preconception and peri-conception) includes basic reproductive health practices, as well as medical genetic screening and counseling. Screening can be conducted during the 3 periods listed:

<> Preconception screening can be useful to distinguish those at risk for specific disorders or at risk of passing a disorder onto their children.

<>Peri-conception screening: maternal characteristics may increase risk, and screening results should be used to offer appropriate care, according to risk.

<> Neonatal screening incorporates clinical examination and screening for disorders of the blood, metabolism and hormone production.

Treatment and care

Many structural congenital anomalies can be adjusted with pediatric surgery and early treatment can be managed to children with functional problems such as thalassemia,  sickle cell disorders, and congenital hypothyroidism (diminished work of the thyroid).

The link between depression and genetic variants connected to higher body mass index suggests that obesity causes depression

People who are obese are more possible to possess depression than those who aren't, however it’s been unclear how one may cause the other. A study of the link between depression and genetic variants connected to higher body mass index suggests that obesity causes depression, and that it is the untoward psychological effects associated with obesity that drive the mood disorder. “These new findings are maybe the strongest up to now to counsel higher weights may actually contribute to depression,” Naveed Sattar, a professor of cardiovascular and medical sciences at the University of Glasgow who didn't participate within the work, tells The Guardian. “Of course, several alternative factors will cause depression, but, even so, weight loss may well be useful to boost mental state in some people, whereas keeping leaner normally should facilitate reduce probabilities of depression.”

To determine the direction of relation, researchers at the University of Exeter and the University of South Australia examined genetic information from the United Kingdom Biobank together with 48,791 people with depression and 291,995 without. They used genetic predisposition to the next body mass index (BMI) as a proxy for actual BMI (which they additionally had information on) to disentangle BMI and its relationship to depression from alternative factors that might confound the results.

The authors checked out 2 sorts of genetic variants and their relationship to depression: those who are related to higher BMI and conjointly joined to metabolic issues, like diabetes, and those that are joined to higher BMI however also are tied to a lower risk of metabolic issues. The researchers reasoned that if it were health problems attendant with fatness that were creating individuals depressed, instead of fatness itself, the genetic variants that didn’t carry any metabolic baggage wouldn't be related to depression. However, what they found was that the genetic variants joined with a lower metabolic risk conjointly correlate with depression.