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

• Severe Mental Deficiency Proportionate Dwarfism and Delayed Sexual Maturation

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

• Cantu Sanchez-Corona Fragoso Syndrome is an extremely rare disorder
• It is characterized by proportionate dwarfism, severe mental retardation, and delayed puberty in males

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

• Cantu Sanchez-Corona Fragoso Syndrome is a rare congenital disorder affecting males. The presentation of symptoms may occur at birth 
• Worldwide, individuals of all racial and ethnic groups may be affected 

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

• A positive family history may be an important risk factor since Cantu Sanchez-Corona Fragoso Syndrome is an inherited condition
• Currently, no other risk factors have been clearly identified for this 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 Fragoso Syndrome? (Etiology)

• The exact genetic cause of Cantu Sanchez-Corona Fragoso Syndrome is not known
•  The disorder may be inherited in an autosomal recessive or X-linked recessive manner

The gene associated with this condition may be located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.

Autosomal recessive: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children born to two carriers have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected).

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

The signs and symptoms of Cantu Sanchez-Corona Fragoso Syndrome may include:

• Severe psychomotor retardation in infancy
• Slow growth
• Proportionate dwarfism
• Delayed puberty
• Non-maturation of reproductive organs
• Mental retardation

How is Cantu Sanchez-Corona Fragoso Syndrome Diagnosed?

Cantu Sanchez-Corona Fragoso 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 Fragoso Syndrome?

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

• Severe mental retardation, which may necessitate assistance with day-to-day tasks
• Reduced quality of life

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

How is Cantu Sanchez-Corona Fragoso Syndrome Treated?

There is no cure for Cantu Sanchez-Corona Fragoso 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 Fragoso Syndrome be Prevented?

Presently, Cantu Sanchez-Corona Fragoso Syndrome may not be preventable, since it is a genetic disorder.

• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy 
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child 
• 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 Fragoso Syndrome? (Outcomes/Resolutions)

• The prognosis of Cantu Sanchez-Corona Fragoso Syndrome is generally poor, owing to severe growth problems and mental retardation
• Typically, the prognosis is assessed on a case-by-case basis 

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

• Cantu Sanchez-Corona Fragoso Syndrome was described in two brothers in Mexico by scientists Cantu, Sanchez-Corona, Garcia-Cruz, and Fragoso in the year 1980

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

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