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

• Cassia Stocco Dos Santos Syndrome

What is Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome? (Definition/Background Information)

• Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome is a multiple congenital anomalies syndrome, reported in the offsprings of a consanguineous couple
• It is characterized by multiple congenital skeletal (dolichocephaly, skull asymmetry, camptodactyly, clubfoot), muscular (muscle hypoplasia), ocular (anophthalmia, buphthalmos, retinal detachment, aniridia and cardiac (prolapse of tricuspid valves, mitral and tricuspid insufficiency) abnormalities
• An autosomal recessive inheritance with variable expressivity was suspected
• There have been no further descriptions in the literature since 1992

(Source: Anophthalmia Megalocornea Cardiopathy Skeletal Anomalies; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Who gets Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome? (Age and Sex Distribution)

• Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome is an extremely rare congenital disorder, with just 3 cases reported in the medical literature
• The presentation of symptoms may occur at birth
• Both males and females may be affected

What are the Risk Factors for Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome? (Predisposing Factors)

• A positive family history may be an important risk factor, since Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome is an inherited condition
• Children of consanguineous parents may bear a higher risk of being born with 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 Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome? (Etiology)

• The genetic cause of Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome is not known at the present time
• An autosomal recessive mode of inheritance has been suggested

Autosomal recessive inheritance: 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 Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome?

The signs and symptoms of Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome may include:

• Skeletal disorders
• Abnormally-long head (or dolichocephaly)
• Skull asymmetry 
• Camptodactyly (bent fingers)
• Clubfoot
• Muscle hypoplasia
• Disorders of the eyes
• Anophthalmia  (absence of eye/eyes)
• Buphthalmos (enlargement of eyeball)
• Retinal detachment
• Aniridia (absence of iris)
• Heart anomalies
• Prolapse of tricuspid valves
• Mitral and tricuspid insufficiency

How is Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome Diagnosed?

Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Eye examinations
• 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 Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome?

The complications of Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome may include:

• Blindness
• Problems with movement
• Abnormal heart function, which may lead to heart attack

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

How is Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome Treated?

There is no cure for Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies 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 Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome be Prevented?

Currently, Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies 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 Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome? (Outcomes/Resolutions)

• The prognosis of Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with severe symptoms and complications may succumb to the condition before or soon after birth
• Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome:

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

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