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

• Anencephaly/Spina Bifida, X-Linked
• X-Linked Anencephaly and Spina Bifida

What is X-Linked Anencephaly and Spina Bifida Syndrome? (Definition/Background Information)

• X-linked Anencephaly and Spina Bifida Syndrome is a rare genetic disorder, characterized by under-developed or incomplete skull, brain defects and abnormal development of the spinal cord
• The exact genetic cause of this syndrome is not currently known. The causative gene or genes of X-Linked Anencephaly and Spina Bifida Syndrome have been localized to the X chromosome
• Thus, this disorder is inherited in an X-linked manner. X-Linked Anencephaly and Spina Bifida Syndrome predominantly affects males
• The symptoms of this disorder may include deformed head due to skull abnormalities, an opening in the spinal column, protrusion of spinal cord tissue in the back and spinal lesions

Who gets X-Linked Anencephaly and Spina Bifida Syndrome? (Age and Sex Distribution)

• X-linked Anencephaly and Spina Bifida Syndrome is a rare, congenital disorder. The presentation of symptoms may occur at birth
• The disorder primarily affects males, although in very rare cases, females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for X-Linked Anencephaly and Spina Bifida Syndrome? (Predisposing Factors)

• A positive family history may be an important risk factor, since X-linked Anencephaly and Spina Bifida Syndrome is an inherited condition

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 X-Linked Anencephaly and Spina Bifida Syndrome? (Etiology)

• The exact genetic cause of X-linked Anencephaly and Spina Bifida Syndrome is not currently known
• The causative gene or genes of the syndrome have been localized to the X chromosome. Thus, this disorder is inherited in an X-linked manner

X-linked recessive pattern of inheritance: The gene associated with this condition is 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.

What are the Signs and Symptoms of X-Linked Anencephaly and Spina Bifida Syndrome?

The signs and symptoms of X-linked Anencephaly and Spina Bifida Syndrome vary, but may include:

• Anencephaly
  • Parts of skull and brain under-developed or missing
  • Deformed head
  • Facial abnormalities
  • Heart malfunction
• Spina bifida
  • An opening in the spinal column
  • Protrusion of a part of the spinal column in the back
  • Lesion on the spinal column
  • Hydrocephalus (fluid build-up in the brain)
  • Learning difficulties
  • Problems with urination and bowel movements

How is X-Linked Anencephaly and Spina Bifida Syndrome Diagnosed?

X-linked Anencephaly and Spina Bifida 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, prenatal, and after birth

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 X-Linked Anencephaly and Spina Bifida Syndrome?

The complications of X-linked Anencephaly and Spina Bifida Syndrome may include:

• Abnormal heart function
• Paralysis

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

How is X-Linked Anencephaly and Spina Bifida Syndrome Treated?

There is no cure for X-linked Anencephaly and Spina Bifida 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 X-Linked Anencephaly and Spina Bifida Syndrome be Prevented?

Currently, X-linked Anencephaly and Spina Bifida Syndrome may not be preventable, since it is a genetic disorder.

• 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 disorders
• Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of X-Linked Anencephaly and Spina Bifida Syndrome? (Outcomes/Resolutions)

• The prognosis of X-linked Anencephaly and Spina Bifida Syndrome is poor, since missing parts of brain and skull make it a fatal condition
• Babies born with this condition do not survive past the first few days

Additional and Relevant Useful Information for X-Linked Anencephaly and Spina Bifida Syndrome:

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

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