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

• Familial Short Stature with Facial Dysmorphism and Osteochondrodysplastic Lesions
• Mievis Verellen-Dumoulin Syndrome

What is Short Stature Syndrome, Brussels type? (Definition/Background Information)

• Short Stature Syndrome, Brussels type, is characterised by short stature presenting in the neonatal period associated with osteochondrodysplastic lesions and facial dysmorphism

(Source: Short Stature Syndrome, Brussels type; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Who gets Short Stature Syndrome, Brussels type? (Age and Sex Distribution)

• Short Stature Syndrome, Brussels type is an extremely rare congenital disorder, described in only two individuals within one family. The onset of symptoms may begin at birth
• Thus far, the condition has been reported in two brothers, and no data is available regarding the occurrence of this disorder in females

What are the Risk Factors for Short Stature Syndrome, Brussels type? (Predisposing Factors)

• A positive family history may be an important risk factor, since Short Stature Syndrome, Brussels type may be inherited
• Currently, no other risk factors have been clearly identified for the 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 Short Stature Syndrome, Brussels type? (Etiology)

• The cause of Short Stature Syndrome, Brussels type is not known at the present time
• Based on the reported cases (in males), it is possible that the disorder is inherited in an X-linked recessive manner

X-linked recessive pattern: The gene associated with this condition may be 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 Short Stature Syndrome, Brussels type?

The signs and symptoms of Short Stature Syndrome, Brussels type may include:

• Abnormality of metabolism/homeostasis
• Short stature
• Calcification of cartilage
• Delayed epiphyseal ossification
• Horseshoe kidney
• Macrocephaly
• Microretrognathia
• Narrow chest
• Triangular face

(Source: Short Stature Syndrome, Brussels type; Genetic and Rare Disease Information Center (GARD) of National Center for Advancing Translational Science (NCATS), USA.)

How is Short Stature Syndrome, Brussels type Diagnosed?

Short Stature Syndrome, Brussels 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 Short Stature Syndrome, Brussels type?

The complications of Short Stature Syndrome, Brussels type may include:

• Severe respiratory distress
• Chronic kidney malfunction

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

How is Short Stature Syndrome, Brussels type Treated?

There is no cure for Short Stature Syndrome, Brussels 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 Short Stature Syndrome, Brussels type be Prevented?

Short Stature Syndrome, Brussels type may not be preventable, since it is a congenital 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 Short Stature Syndrome, Brussels type? (Outcomes/Resolutions)

• The prognosis of Short Stature Syndrome, Brussels 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 Short Stature Syndrome, Brussels type:

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

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