Your Child Can Be Affected By This Rare Disease: Young Simpson Syndrome

Vaibhav Saxena

, Health A2Z

The Young Simpson Syndrome is an extremely rare condition which was not recognized in early ages whereas after the encounter of few cases this syndrome came into light. It is a rare yet chronic condition with typical astonishing symptoms that can ruin a the sufferer’s life.


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What is Young Simpson Syndrome?



This condition is categorized as a congenital condition, which is the group of birth defects that arose without any particular cause or reason. The Young Simpson syndrome (YSS) is the rare condition which is expanded to Say-Barber-Biesecker-Young-Simpson Syndrome or just simply SBBYSS or SBBS which is a clear variant of OHDO Syndrome.

The symptoms that are shown in the case of YSS is entirely similar to the OHDO syndrome. The general reason behind the tendency of combining these two syndromes as each other’s variant and similar is due to their same action over the patient. Moreover, the OHDO syndrome is diagnosed and treated in the same way that YSS is conducted.


What are the Symptoms of Young Simpson Syndrome?



The Say-Barber-Biesecker-Young-Simpson Syndrome is a condition which arouses problems like global developmental delay/intellectual disability, hypotonia, genital abnormalities in males (cryptorchidism), and patellar hypoplasia/agenesis that gives birth to physical conditions like congenital heart defects, thyroid anomalies, hearing loss, and dental anomalies.

The general recognizable symptoms of the OHDO Syndrome or YSS are mentioned below.


1. Hypothyroidism


Hypothyroidism is also termed as underactive thyroid or low thyroid, which causes the endocrine system disbalance in which the thyroid gland does not produce enough thyroid hormone. This condition can cause the feeling of tiredness, constipation, depression, and sudden weight gain.


2. Heart Defects


The OHDO syndrome can even elevate the risks of heart defects like improper breathing, heart’s incapability to circulate the sufficient amount of blood and risks of heart failure as well.


3. Mental Retardness


The brain development of a person suffering from YSS is dramatically slow and defective. The development of the brain is hindered and incomplete which causes the patient to act abnormally.


4. Growth Delay


The more this condition gets older the worst it becomes. The growth of the child is troubled which causes the wrong and abnormal postures, weak body comparatively to the children of same age and inability to perform motor functions.


5. Facial Dysmorphism


The facial dysmorphism involves the blepharophimosis and ptosis conditions in the child which makes them look similar to other children very often, as reported by a few parents.


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What Causes OHDO Syndrome?


The causes of OHDO syndrome and Young Simpson Syndrome are entirely similar as they both share the similar category. However one can categorize them as the same. There are multiple studies conducted after the discovery of this condition in 1987, all of the studies indicated that the syndrome is caused due to mutation inheritance and chromosomes defects.

In most of the cases, the condition was inherited through the parent of the sufferer. The series of additions and deletions on gene KAT6B, chromosome 10q22.2 is considered to be the major responsible hand behind the occurrence of SBBYSS.


How is OHDO Syndrome Diagnosed and Treated?


The diagnosis process begins right after the birth of the child through a clinical geneticist on the basis of the physical features. The recognization is easy as due to this condition many physical changes are found in the child. The diagnosis is entirely reliable over the physical features and no other tests are yet invented to confirm the condition right away.

As we learned, the Young Simpson syndrome is a recently discovered and rare condition. Hence the possible factors to treat and cure condition are deficient. The treatment generally involves physiotherapy, occupational therapy and a detailed assessment of special educational needs. However, management for tackling the symptoms is also implemented by the doctor.



Fast Facts about OHDO Syndrome:


1. The 50% births with YSS are either dumb, deaf or blind.


2. The Life expectancy of Young Simpson syndrome is uncertain and dependable on the genes.


3. Increased medical vernacular is caused under this condition


4. Children with OHDO syndrome generate uncanny habits


5. The Young Simpson syndrome causes mental retardation and growth deformities




The Young Simpson syndrome is an extremely rare condition that arises due to gene mutations which makes it extremely uncertain and unpredictable. The symptoms and risks differ from one person to another. However, extensive care and love for the child is the best management technique to tackle the syndrome.


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