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

• Microcephaly-Microcornea Syndrome, Seemanova type
• Seemanova Lesny Syndrome
• X-Linked Microcephaly, Microphthalmia, Microcornea, Congenital Cataract, Hypogenitalism, Mental Deficiency, and Growth Retardation

What is Microcephaly Microcornea Syndrome, Seemanova type? (Definition/Background Information)

• Microcephaly-Microcornea Syndrome, Seemanova type is characterized by microcephaly and brachycephaly, eye anomalies (microphthalmia, microcornea, congenital cataract), hypogenitalism, severe intellectual deficit, growth retardation and progressive spasticity.
• It has been described in two patients (a male and his sister's son). Both patients also presented with facial dysmorphism, including upslanting palpebral fissures, epicanthal folds, highly arched palate, microstomia, and retrognathia
• This syndrome is transmitted as an X-linked trait

(Source: Microcephaly Microcornea Syndrome, Seemanova type; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Who gets Microcephaly Microcornea Syndrome, Seemanova type? (Age and Sex Distribution)

• Microcephaly Microcornea Syndrome, Seemanova type is an extremely rare congenital disorder, described in only 2 males till date
• The presentation of symptoms may occur at birth or in infancy
• The condition predominantly affects males

What are the Risk Factors for Microcephaly Microcornea Syndrome, Seemanova type? (Predisposing Factors)

• A positive family history may be an important risk factor, since Microcephaly Microcornea Syndrome, Seemanova type can be inherited
• Currently, no other risk factors have been clearly identified for the disorder

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 Microcephaly Microcornea Syndrome, Seemanova type? (Etiology)

• The gene mutation that causes Microcephaly Microcornea Syndrome, Seemanova type, is not known at the present time
• The condition is inherited in an X-linked manner

X-linked recessive pattern: 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 Microcephaly Microcornea Syndrome, Seemanova type?

The signs and symptoms of Microcephaly Microcornea Syndrome, Seemanova type may include:

• Brachycephaly
• Cataract
• Epicanthus
• High palate
• Hypogonadism
• Severe intellectual disability 
• Microcephaly
• Microcornea
• Microphthalmia
• Narrow mouth
• Retrognathia
• Upslanted palpebral fissure

(Source: Microcephaly Microcornea Syndrome, Seemanova type; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Microcephaly Microcornea Syndrome, Seemanova type Diagnosed?

Microcephaly Microcornea Syndrome, Seemanova type 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 Microcephaly Microcornea Syndrome, Seemanova type?

The complications of Microcephaly Microcornea Syndrome, Seemanova type may include:

• Impaired vision
• Need for assistance with routine, day-to-day activities

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

How is Microcephaly Microcornea Syndrome, Seemanova type Treated?

There is no cure for Microcephaly Microcornea Syndrome, Seemanova type, since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complication that develops.

How can Microcephaly Microcornea Syndrome, Seemanova type be Prevented?

Currently, Microcephaly Microcornea Syndrome, Seemanova type 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 Microcephaly Microcornea Syndrome, Seemanova type? (Outcomes/Resolutions)

• The prognosis of Microcephaly Microcornea Syndrome, Seemanova type 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 Microcephaly Microcornea Syndrome, Seemanova type:

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

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