What are the other Names for this Condition? (Also known as/Synonyms)

• Cantu Craniofaciofronto Digital Syndrome
• Mild Mental Deficiency, Short Stature, Macrocranium, Cardiac Anomalies, Cutis Laxa, Peculiar Facies, Wrinkled Palms and Soles, Small Vertebral Bodies Syndrome

What is Cantu Sanchez-Corona Hernandez Syndrome? (Definition/Background Information)

• Cantu Sanchez-Corona Hernandez Syndrome is a rare disorder, characterized by facial abnormalities, short stature, cardiac abnormalities, problems with connective tissue and mild mental retardation
• Cantu Sanchez-Corona Hernandez Syndrome is believed to arise as a result of sporadic dominant gene mutation in the children of parents who are of advanced age during conception 

Who gets Cantu Sanchez-Corona Hernandez Syndrome? (Age and Sex Distribution)

• Cantu Sanchez-Corona Hernandez Syndrome is a rare congenital disorder. The presentation of symptoms may occur at birth or become apparent during childhood (3-10 years of age)
• Both males and females may be affected, although the disorder is reported more frequently in females
• Worldwide, individuals of all racial and ethnic groups may be affected 

What are the Risk Factors for Cantu Sanchez-Corona Hernandez Syndrome? (Predisposing Factors)

• Being born to parents who were of advanced age during conception and pregnancy is considered a risk factor for Cantu Sanchez-Corona Hernandez Syndrome

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others. 

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider. 

What are the Causes of Cantu Sanchez-Corona Hernandez Syndrome? (Etiology)

• The exact gene mutation causing Cantu Sanchez-Corona Hernandez Syndrome is not known
• It is believed that the condition arises sporadically, as a new mutation in a gene that gets expressed in an autosomal dominant manner, in children conceived by parents of advanced age

What are the Signs and Symptoms of Cantu Sanchez-Corona Hernandez Syndrome?

The signs and symptoms of Cantu Sanchez-Corona Hernandez Syndrome may include the following:

• Disproportionately large head, when compared to the rest of the body (macrocranium)
• Prominent forehead
• Widely-spaced eyes (hypertelorism)
• Protruding eyeballs (exophthalmos)
• Short stature
• Small vertebral bodies
• Slender long bones
• Loose skin, wrinkled palms and soles (cutis laxa)
• Congenital heart defects
• Mild mental retardation

How is Cantu Sanchez-Corona Hernandez Syndrome Diagnosed?

Cantu Sanchez-Corona Hernandez Syndrome is diagnosed on the basis of the following information: 

• Complete physical examination 
• Thorough medical history evaluation 
• Assessment of signs and symptoms 
• Laboratory tests 
• Imaging studies 
• Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Cantu Sanchez-Corona Hernandez Syndrome?

The complications of Cantu Sanchez-Corona Hernandez Syndrome may include: 

• Congestive heart failure due to abnormalities in the heart structure and function
• Lung failure due to connective tissue disorder
• Signs and symptoms related to a dysfunctional gastrointestinal tract and urinary tract, also due to loss of elasticity in connective tissue
• Low self-esteem
• Depression

Complications may occur with or without treatment, and in some cases, due to treatment also. 

How is Cantu Sanchez-Corona Hernandez Syndrome Treated?

There is no cure for Cantu Sanchez-Corona Hernandez Syndrome since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complication that develops

How can Cantu Sanchez-Corona Hernandez Syndrome be Prevented?

• Presently, Cantu Sanchez-Corona Hernandez Syndrome may not be preventable, since it is a genetic disorder 
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorder
• Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of Cantu Sanchez-Corona Hernandez Syndrome? (Outcomes/Resolutions)

• The prognosis of Cantu Sanchez-Corona Hernandez Syndrome is dependent upon the severity of the signs and symptoms and associated complications if any 
• Individuals with mild conditions have a better prognosis than those with severe symptoms and complications 
• Typically, the prognosis may be assessed on a case-by-case basis 

Additional and Relevant Useful Information for Cantu Sanchez-Corona Hernandez Syndrome:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/