Velocardiofacial Syndrome Pictures

What is Velocardiofacial Syndrome ?

A defect in the chromosome 22 that leads to a portion of chromosome 22 being chipped off or deleted results in the genetic disorder called velocardiofacial syndrome. Delayed or weak development of the different systems in the body is a direct result of the presence of velocardiofacial syndrome.

The rate of prevalence of velocardiofacial syndrome in the general population is about 1 in every 4000 individuals.

Velocardiofacial Syndrome Symptoms

The symptoms of velocardiofacial syndrome may range from being mild to very serious. This variation of symptoms is evident as per the severity and the type of body systems that are affected. Some of the signs of velocardiofacial syndrome are as follows:

• Abnormalities of the palate like cleft palate
• Characteristic facial features like a narrow groove of the upper lip, wide-set eyes, hypertelorism or low-set ears.
• Congenital heart defects or diseases.
• Learning disabilities and difficulties
• Significant feeding difficulties
• Hypocalcemia
• Conductive or sensorineural hearing loss
• Deficiencies in growth hormones
• Renal anomalies
• Seizures
• Psychiatric disorders
• Weariness or easy fatigue
• Failure to realize one’s potential
• Bluish skin color resulting from deficiency in circulation of oxygen-rich blood
• Skeletal abnormalities
• Increased infections due to autoimmune disorders
• Problems in weight gain
• Poor muscle tone
• laryngotracheoesophageal anomalies that may lead to shortness of breath
• Spasms, tremors or twitching of the arms, hands, and/ or around the throat or mouth.
• Delays in reaching infant milestones like sitting up or rolling over
• Speech or motor development delays.

Velocardiofacial Syndrome Pictures

Picture 1 : Velocardiofacial Syndrome Inheritance

Image source : wikimedia.org

 

Picture 2 : Velocardiofacial Syndrome pic

Image source : drugster.info

Picture 3 : Velocardiofacial Syndrome photo

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Velocardiofacial Syndrome Causes

The causes of velocardiofacial syndrome are as follows:

• Deletion of a portion of the chromosome 22. This deleted portion may include around 35 to 40 genes.
• The deletion may be random in either the mother’s egg or the father’s sperm. The deletion may also happen during the early stages of fetal development. The mutation of chromosome 22 will then replicate and multiple in all the cells of the growing foetus.
• Velocardiofacial syndrome may pass on from either of the parents to the child.

Velocardiofacial Syndrome Treatment

There is no cure for velocardiofacial syndrome. The treatment is for treating the symptoms of velocardiofacial syndrome.

• Surgery may treat conditions like heart defects and cleft palate. Thymus dysfunction, hypoparathyroidism and other known conditions associated with velocardiofacial syndrome may be treated with drugs.
• Developmental therapy for behaviour changes, occupational therapy for learning skills necessary in daily life and speech therapy for improvement in language and verbal skills are used to treat the deficiencies in persons with velocardiofacial syndrome.