Yunis Varon syndrome (YVS)

 

Yunis Varon syndrome is an extremely rare and congenital and genetic and multisystem disorder. This disorder affects the bones,hair,teeth and parts of the heart and lungs in the body.Generally, children with this condition must have facial characteristics or abnormalities of fingers and toes. In most of the cases, babies who are born with this disorder will face breathing and/or feeding challenges.Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)  listed this disease as a rare disease. In the United States, Yunis Varon syndrome affects 200,000 people. Usually symptoms of Yunis Varon syndrome might be very different in severity even though they are from the same family.

Basic Characteristics of YNS(Yunis Varon syndrome) disorder are:

• Usually, patients with YNS disorder have underdeveloped or absent collarbones (clavicles). 

• Having short or sloped shoulders. In some rare cases, shoulders may be made to meet in the middle of the body.

• Having this disorder, may be delaying the closing of spaces between the bones of the skull. Usually, that fontanel closes in early childhood but it may open into adulthood in people who are affected by this disorder.

• People who are affected with this disorder may be 3 to 6 inch shorter than other individuals of their family

• Short, tapered fingers, and broad thumbs

• Short forearms

• Flat feet

• Knock knees

• An abnormal curvature of the spine

• A wide, short skull called brachycephaly

• A prominent forehead

• Wide-set eyes called hypertelorism

• Flat nose

• Small upper jaw

• Abnormalities of the ears

• Upturned nostrils

• Developmental delays

• Eyes that appear large or bulging

• Heart problems like congenital heart conditions

• Intellectual problems

• Disproportionately small head

• Deformity of the pelvis

• A small jaw which can cause the problems while eating and breathing

• Failure to thrive

• Unusual of fingers and toes  means missing or underdeveloped thumbs, toes, or pinky fingers

Causes:

• Geneally, Yunis Varon syndrome disorder is a family disorder (hereditary).

• The foremost cause of Yunis Varon syndrome is the imbalance of a rare second messenger called FIG4 mutations in the brain.

• Having a history of marriage with close relations called consanguinity.

• High risk of this disorder happens when both the parents are carriers then it passes the defective gene and hence, 25% chance of having affected child in each pregnancy. And almost 50% risk having a child who will be a carrier like the parents in each pregnancy.

• The chance of receiving normal genes from both parents and being genetically normal for that is 25% risk.

Diagnosis:

• Physicians suggest a diagnosis of Yunis Varon syndrome (abnormalities like limb and bone abnormal developments or heart defects at birth) is identified before birth using ultrasonography. During fetal ultrasonography, reflected sound waves are used to take an image of the developing fetus.

• Yunis Varon syndrome disorder might be diagnosed or confirmed after birth which is based on a clinical evaluation that can be identified by its sign and symptoms.

• Another method for diagnosis is genetic testing which is for mutations in FIG4 can also confirm a diagnosis.

Treatment and prognosis:

• Generally YVS syndrome is fatal in infancy.

• In this disorder, early intervention is important. Particularly in infants, breathing and feeding problems are monitored. For this they used therapies called “symptomatic and supportive” 

• Symptomatic measures can be taken based on accompanying abnormalities like corrective dental, facial, and orthopedic surgery

• Some other medical and surgical therapy used to treat respiratory illness and it is very much needed for early treatment in newborn infants.

• Specific therapies are vary based on individuals who are affected. Therapies are symptomatic and supportive. Usually for this syndrome, treatment will include coordinated efforts of a team of specialists. Pediatricians and specialists in  orthopedists who help to diagnose and treat skeletal abnormalities, physical therapists, and specialists in cardiologists who help to diagnose and treat disorders of heart functions and also healthcare providers might be needed to systematically plan effective treatment.

• Healthcare providers must closely monitor the infants with syndrome like Yunis Varon syndrome for immediate detection of feeding and breathing difficulties with this disorder.

• Healthcare providers suggest some preventive measures or immediate therapy.

• And treatments for feeding problems which includes artificial feeding methods like tube feeding which helps to feed the food through a tube directly into the infant’s stomach or IV feeding which helps to feed essential nutrients into a vein using a tube.

• While facing difficulties in breathing, they may require special measures with the use of a special machine called ventilator which supports for breathing called artificial respiration

• Some other special services might be beneficial for affected children which includes special remedial education, special social awareness support, physical therapy and other vocational services.

• Counseling like Genetic counseling might be of benefit for affected people and their families.

Frequently Asked Questions

Q1. What are the symptoms of Yunis-Varon syndrome?

Ans: underdeveloped or absent collarbones (clavicles); large fontanelles; characteristic facial features; hypotonia (reduced muscle tone) and/or abnormalities of the fingers and toes.

Q2. What is the cause of Yunis-Varon syndrome?

Ans: Yunis-Varón Syndrome Is Caused by Mutations in FIG4, Encoding a Phosphoinositide Phosphatase.

Q3. What are the diagnosis methods?

Ans: During fetal ultrasonography, reflected sound waves are used to take an image of the developing fetus.

Q4. What are the treatment methods?

Ans: Generally YVS syndrome is fatal in infancy.In this disorder, early intervention is important. Particularly in infants, breathing and feeding problems are monitored. For this they used therapies called “symptomatic and supportive”.

Q5. What are the special services for YVS?

Ans: Other special services might be beneficial for affected children which includes special remedial education, special social awareness support, physical therapy and other vocational services.