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

• Prominent Glabella Microcephaly Hypogenitalism

What is MacDermot-Winter Syndrome? (Definition/Background Information)

• MacDermot-Winter Syndrome is a very rare syndrome described in two sibs and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions

(Source: Prominent glabella-microcephaly-hypogenitalism syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Who gets MacDermot-Winter Syndrome? (Age and Sex Distribution)

• MacDermot-Winter 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 MacDermot-Winter Syndrome? (Predisposing Factors)

• Children born into consanguineous (close blood relatives) parents bear an increased risk of being born with MacDermot-Winter 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 MacDermot-Winter Syndrome? (Etiology)

The exact cause of MacDermot-Winter Syndrome is presently unknown.

What are the Signs and Symptoms of MacDermot-Winter Syndrome?

The signs and symptoms of MacDermot-Winter Syndrome may include:

Very frequently present symptoms in 80-99% of the cases:

• Abnormal hair pattern
• Cognitive impairment
• Cryptorchidism
• Dolichocephaly
• Highly arched eyebrow
• Hypertonia
• Hypoplasia of penis
• Intrauterine growth retardation
• Macrotia
• Microcephaly
• Micrognathia
• Posteriorly rotated ears
• Prominent glabella
• Prominent nasal bridge
• Scrotal hypoplasia
• Seziures
• Short nose
• Short palpebral fissure
• Wide intermaxillary distance

Frequently present symptoms in 30-79% of the cases:

• Abnormality of the voice
• Bilateral single transverse palmar creases
• Brachydactyly
• Camptodactyly of finger
• Hydronephrosis
• Short neck
• Thickened nuchal skin fold
• Underdeveloped nasal alae
• Ventriculomegaly

Some other signs and symptoms may include:

• Death in infancy
• Frontal upsweep of hair
• Hypoplastic male external genitalia
• Low anterior hairline

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

How is MacDermot-Winter Syndrome Diagnosed?

MacDermot-Winter 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 MacDermot-Winter Syndrome?

The complications of MacDermot-Winter Syndrome may include:

• Severe intellectual impairment
• Infertility
• Physical deformities

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

How is MacDermot-Winter Syndrome Treated?

There is no cure for MacDermot-Winter Syndrome. The treatment is usually given to manage the signs and symptoms and any complications that develops.

How can MacDermot-Winter Syndrome be Prevented?

• Currently, MacDermot-Winter Syndrome may not be preventable, since the cause is unknown
• Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of MacDermot-Winter Syndrome? (Outcomes/Resolutions)

• The prognosis of MacDermot-Winter 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

Additional and Relevant Useful Information for MacDermot-Winter Syndrome:

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

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