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

• Cleft Lip-Retinopathy Syndrome
• Cleft Lip with Progressive Retinopathy

What is Ausems Wittebol-Post Hennekam Syndrome? (Definition/Background Information)

• Ausems Wittebol-Post Hennekam Syndrome, or Cleft Lip-Retinopathy Syndrome, is an exceedingly rare association characterized by cleft lip and progressive retinopathy

(Source: Cleft lip-retinopathy syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Who gets Ausems Wittebol-Post Hennekam Syndrome? (Age and Sex Distribution)

• Ausems Wittebol-Post Hennekam Syndrome is a rare congenital disorder. The presentation of symptoms may occur at birth
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Ausems Wittebol-Post Hennekam Syndrome? (Predisposing Factors)

• Currently, no risk factors have been clearly identified for Ausems Wittebol-Post Hennekam 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 Ausems Wittebol-Post Hennekam Syndrome? (Etiology)

The exact cause of development of Ausems Wittebol-Post Hennekam Syndrome is presently unknown.

What are the Signs and Symptoms of Ausems Wittebol-Post Hennekam Syndrome?

The signs and symptoms of Ausems Wittebol-Post Hennekam Syndrome may include:

• Abnormality of retinal pigmentation
• Very frequently present symptoms in 80-99% of the cases: Non-midline cleft lip
• Frequently present symptoms in 30-79% of the cases:
  • Retinopathy
  • Visual impairment

(Source: Ausems Wittebol-Post Hennekam Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Ausems Wittebol-Post Hennekam Syndrome Diagnosed?

Ausems Wittebol-Post Hennekam 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 Ausems Wittebol-Post Hennekam Syndrome?

The complications of Ausems Wittebol-Post Hennekam Syndrome may include:

• Emotional stress due to facial disfigurement
• Loss of vision

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

How is Ausems Wittebol-Post Hennekam Syndrome Treated?

Presently, there is no cure for Ausems Wittebol-Post Hennekam Syndrome. The treatment is usually given to manage the signs and symptoms and any complications that develops.

How can Ausems Wittebol-Post Hennekam Syndrome be Prevented?

• Currently, Ausems Wittebol-Post Hennekam Syndrome may not be preventable, since the cause of the disorder is unknown
• Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of Ausems Wittebol-Post Hennekam Syndrome? (Outcomes/Resolutions)

• The prognosis of Ausems Wittebol-Post Hennekam Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with mild conditions have 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 Ausems Wittebol-Post Hennekam Syndrome:

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

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