Amelia Cleft Lip Palate Hydrocephalus Iris Coloboma Syndrome

Amelia Cleft Lip Palate Hydrocephalus Iris Coloboma Syndrome

Article
Ear, Nose, & Throat (ENT)
Brain & Nerve
+8
Contributed byKrish Tangella MD, MBAApr 18, 2018

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

  • Yim-Ebbin Syndrome

What is Amelia Cleft Lip Palate Hydrocephalus Iris Coloboma Syndrome? (Definition/Background Information)

  • Amelia Cleft Lip Palate Hydrocephalus Iris Coloboma Syndrome is a congenital disorder characterized by facial abnormalities, absence of arms, accumulation of fluid in the brain, and a hole in the colored part of the eyes
  • Thus far, only about 3 or 4 cases have been reported worldwide. Both male and female genders may be affected by this syndrome
  • The exact cause of Amelia Cleft Lip Palate Hydrocephalus Iris Coloboma Syndrome is not understood

Who gets Amelia Cleft Lip Palate Hydrocephalus Iris Coloboma Syndrome? (Age and Sex Distribution)

  • Amelia Cleft Lip Palate Hydrocephalus Iris Coloboma Syndrome is a rare, congenital disorder. The symptoms of the condition may be apparent before 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 Amelia Cleft Lip Palate Hydrocephalus Iris Coloboma Syndrome? (Predisposing Factors)

  • Currently, no risk factors have been clearly identified for Amelia Cleft Lip Palate Hydrocephalus Iris Coloboma 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 Amelia Cleft Lip Palate Hydrocephalus Iris Coloboma Syndrome? (Etiology)

The exact cause of Amelia Cleft Lip Palate Hydrocephalus Iris Coloboma Syndrome is not known

What are the Signs and Symptoms of Amelia Cleft Lip Palate Hydrocephalus Iris Coloboma Syndrome?

The signs and symptoms of Amelia Cleft Lip Palate Hydrocephalus Iris Coloboma Syndrome may include:

  • Absence of arms
  • Cleft lip and/or palate
  • Shortening of the femur bones
  • Abnormalities in the other leg bones (such as the fibulae)
  • Club feet
  • Oligodactyly in feet (multiple toes)
  • Syndactyly of toes (fused toes)
  • Presence of a cyst in place of the eye
  • Iris coloboma (a hole in the colored part of the eye)
  • Scoliosis or curved spine
  • Dislocation of hips
  • Omphalocele (presence of intestine and other organs of the abdomen outside the body)
  • Heart septal defects
  • Renal abnormalities
  • Encephalocele (developmental defect leading protrusions of the brain through skull openings)
  • Hydrocephalus, or accumulation of fluid in the brain cavities

How is Amelia Cleft Lip Palate Hydrocephalus Iris Coloboma Syndrome Diagnosed?

During pregnancy, Amelia Cleft Lip Palate Hydrocephalus Iris Coloboma Syndrome is diagnosed on the basis of a prenatal ultrasonography. If a live birth takes place; then, the following may be considered:

  • 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 Amelia Cleft Lip Palate Hydrocephalus Iris Coloboma Syndrome?

The complications of Amelia Cleft Lip Palate Hydrocephalus Iris Coloboma Syndrome may include:

  • Heart malfunction
  • Kidney malfunction
  • Brain malfunction
  • Inability to survive

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

How is Amelia Cleft Lip Palate Hydrocephalus Iris Coloboma Syndrome Treated?

  • Presently, there is no cure for Amelia Cleft Lip Palate Hydrocephalus Iris Coloboma Syndrome, since it is a congenital disorder
  • If a live birth occurs, the treatment is generally given to manage the signs and symptoms and any complication that develops

How can Amelia Cleft Lip Palate Hydrocephalus Iris Coloboma Syndrome be Prevented?

  • Currently, Amelia Cleft Lip Palate Hydrocephalus Iris Coloboma Syndrome may not be preventable, since it is a developmental disorder of the fetus
  • Active research is currently being performed to explore the possibilities for treatment and prevention of such disorders

What is the Prognosis of Amelia Cleft Lip Palate Hydrocephalus Iris Coloboma Syndrome? (Outcomes/Resolutions)

The prognosis of Amelia Cleft Lip Palate Hydrocephalus Iris Coloboma Syndrome is poor since the probability of survival of the fetus/neonate is generally low.

Additional and Relevant Useful Information for Amelia Cleft Lip Palate Hydrocephalus Iris Coloboma Syndrome:

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

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

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Krish Tangella MD, MBA picture
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Krish Tangella MD, MBA

Pathology, Medical Editorial Board, DoveMed Team

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