Game Friedman Paradice Syndrome

Game Friedman Paradice Syndrome

Article
Brain & Nerve
Bone, Muscle, & Joint
+5
Contributed byKrish Tangella MD, MBAMar 06, 2019

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

  • Game-Friedman-Paradice Syndrome
  • Hydrocephalus with Associated Malformations
  • Retarded Growth, Hydrocephalus, Micrognathia, Intestinal Malrotation, Omphalocele, Short Lower Limbs and Foot Deformities

What is Game Friedman Paradice Syndrome? (Definition/Background Information)

  • Game-Friedman-Paradice Syndrome, also known as growth delay - hydrocephaly - lung hypoplasia, is a rare developmental disorder
  • It is described in 4 sibs so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities

(Source: Game Friedman Paradice Syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Who gets Game Friedman Paradice Syndrome? (Age and Sex Distribution)

  • Game Friedman Paradice Syndrome is an extremely rare congenital disorder that has been so far reported only in 4 siblings 
  • The presentation of symptoms may occur before or soon after birth
  • Both males and females may be affected

What are the Risk Factors for Game Friedman Paradice Syndrome? (Predisposing Factors)

  • A positive family history may be an important risk factor, since Game Friedman Paradice Syndrome can 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 Game Friedman Paradice Syndrome? (Etiology)

  • The exact genetic cause of Game Friedman Paradice Syndrome is not known at the present time
  • The condition is inherited in an autosomal recessive manner

Autosomal recessive: 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 Game Friedman Paradice Syndrome?

The signs and symptoms of Game Friedman Paradice Syndrome may include:

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

  • Aqueductal stenosis
  • Intestinal malrotation
  • Intrauterine growth retardation
  • Lower limb undergrowth
  • Micrognathia
  • Omphalocele
  • Pulmonary hypoplasia
  • Radial bowing

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

  • Abnormality of the foot
  • Hydrocephalus
  • Short lower limbs

Occasionally present symptoms in 5-29% of the cases:

  • Abnormal vertebral ossification
  • Abnormality of fibula morphology
  • Abnormality of the ribs
  • Cerebral calcification
  • Splenomegaly
  • Tibial bowing
  • Upslanted palpebral fissure

(Source: Game Friedman Paradice Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Game Friedman Paradice Syndrome Diagnosed?

Game Friedman Paradice 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 Game Friedman Paradice Syndrome?

The complications of Game Friedman Paradice Syndrome may include:

  • Poor feeding and inability to thrive
  • Severe respiratory distress

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

How is Game Friedman Paradice Syndrome Treated?

There is no cure for Game Friedman Paradice Syndrome, since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complications that develops.

How can Game Friedman Paradice Syndrome be Prevented?

Currently, Game Friedman Paradice 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 Game Friedman Paradice Syndrome? (Outcomes/Resolutions)

  • The prognosis of Game Friedman Paradice 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
  • Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Game Friedman Paradice Syndrome:

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

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

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Krish Tangella MD, MBA

Pathology, Medical Editorial Board, DoveMed Team

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