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

• Neonatal Death Dwarfism

What is Dwarfism Thin Bones Multiple Fractures Syndrome? (Definition/Background Information)

• Dwarfism Thin Bones Multiple Fractures Syndrome is a rare congenital disorder characterized by intra-uterine dwarfism, and facial abnormalities, thin bones and multiple fractures in the newborn

Who gets Dwarfism Thin Bones Multiple Fractures Syndrome? (Age and Sex Distribution)

• Dwarfism Thin Bones Multiple Fractures 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 Dwarfism Thin Bones Multiple Fractures Syndrome? (Predisposing Factors)

• The risk factors for Dwarfism Thin Bones Multiple Fractures Syndrome are not well-understood

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 Dwarfism Thin Bones Multiple Fractures Syndrome? (Etiology)

The exact underlying cause of Dwarfism Thin Bones Multiple Fractures Syndrome is currently unknown.

What are the Signs and Symptoms of Dwarfism Thin Bones Multiple Fractures Syndrome?

The signs and symptoms of Dwarfism Thin Bones Multiple Fractures Syndrome may include:

• Intra-uterine dwarfism
• Low birth weight and low birth height
• Facial abnormalities including:
• Low set ears
• Abnormal ear lobes
• Prominent forehead
• Under-developed eyebrow arches
• Under-developed mid-facial bones
• Moderate hydrops (swelling/edema of a newborn)
• Thin ribs; thin long bones
• Fractures of multiple bones
• Underdeveloped spleen
• Extensive meconium (stools) aspiration into the lungs, causing respiratory insufficiency

How is Dwarfism Thin Bones Multiple Fractures Syndrome Diagnosed?

Dwarfism Thin Bones Multiple Fractures 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

In some cases, the diagnosis of the condition may be undertaken following an autopsy (due to death in infancy).

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 Dwarfism Thin Bones Multiple Fractures Syndrome?

The complications of Dwarfism Thin Bones Multiple Fractures Syndrome may include:

• Extreme difficulties in breathing
• Fragile bones leading to multiple fractures

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

How is Dwarfism Thin Bones Multiple Fractures Syndrome Treated?

Presently, there is no cure for Dwarfism Thin Bones Multiple Fractures Syndrome, since it is a congenital condition. The treatment is usually given to manage the signs and symptoms and any complication that develops.

How can Dwarfism Thin Bones Multiple Fractures Syndrome be Prevented?

• Dwarfism Thin Bones Multiple Fractures Syndrome may not be preventable, since the cause of development of this congenital disorder is not known
• Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of Dwarfism Thin Bones Multiple Fractures Syndrome? (Outcomes/Resolutions) 

• The prognosis of Dwarfism Thin Bones Multiple Fractures Syndrome is generally poor
• Some babies with the condition may be stillborn, while others may succumb to the condition in the neonatal phase

Additional and Relevant Useful Information for Dwarfism Thin Bones Multiple Fractures Syndrome:

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

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