Fountain Syndrome

Fountain Syndrome

Article
Diseases & Conditions
Congenital & Genetic Disorders
+1
Contributed byMaulik P. Purohit MD MPHSep 14, 2018

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

  • Mental Retardation-Deafness-Skeletal Abnormalities-Coarse Face with Full Lips
  • Mental Retardation, Sensorineural Deafness, Skeletal Abnormalities, and Coarse Face with Full Lips

What is Fountain Syndrome? (Definition/Background Information)

  • Fountain Syndrome is an extremely rare genetic disorder, simultaneously affecting multiple body regions
  • It is primarily characterized by severe bone abnormalities, deafness, a unique facial appearance with full lips, apart from mild to severe mental retardation
  • Seeking suitable treatment or availing proper healthcare for this condition is difficult, considering the very few incidences of Fountain Syndrome (less than 10 cases in the existing medical literature), and the multiple congenital abnormalities that are present

Who gets Fountain Syndrome? (Age and Sex Distribution)

  • Fountain Syndrome is an extremely rare condition that manifests at birth
  • Currently, it is thought to be uniformly distributed among both the male and female genders and across all races. No specific racial or geographic preferences have been observed

What are the Risk Factors for Fountain Syndrome? (Predisposing Factors)

  • Genetic factors play a major role in Fountain Syndrome; individuals with a family history of the disorder, are at the greatest risk

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases ones 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 Fountain Syndrome? (Etiology)

  • A gene mutation is the cause of Fountain Syndrome. It is an autosomal recessive condition, implying that the child has to inherit the defective genes from both its parents, to develop this condition

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).

  • The exact mechanism of how the defective gene causes multiple developmental anomalies is still being medically researched into

What are the Signs and Symptoms of Fountain Syndrome?

The degree of intensity of the condition varies from mild to severe. The classical signs that identify Fountain Syndrome are:

  • Mental retardation, intellectual growth delays
  •  Congenital deafness, due to inner ear defects; this causes speech difficulties too
  • Swollen facial features, due to abnormal fluid accumulation beneath the skin surface. It causes puffy lips and cheeks
  • Feet and hands are broad, heavy, and stubby
  • Skeletal anomalies include extremely curved spine, thickened skull cap, large-sized head, and short stature
  • Generalized epileptic seizures

How is Fountain Syndrome Diagnosed?

A physical examination of the child is performed, which includes gathering medical information related to family history of Fountain Syndrome. The characteristic features may help a physician suspect the disorder. There are no specially recommended tests for the syndrome.

Some of the diagnostic tests performed include:

  • Genetic analysis
  • Prenatal diagnosis (during pregnancy)
  • Audiological tests, to examine the extent of hearing loss
  • X-ray, to screen for bone defects
  • MRI scan of brain
  • EEG, if the child has seizures

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 Fountain Syndrome?

Complications that develop due to Fountain Syndrome are usually due to an increased severity of the multiple physical and mental disabilities. The affected individuals are infants and. young children, which further complicates the condition.

  • Growth from childhood to adult, and the hormonal changes involved may (adversely) affect the course of signs and symptoms
  • Severe mental developmental issues, total speech and hearing impairment, due to nervous system anomalies
  • Weak muscle tone, which is observed as the child moves into adulthood
  • It is difficult to obtain cooperation for physical therapy/treatment from young children, as they are afraid to move, or comply, fearing pain
  • Those with severe forms of Fountain Syndrome have to live with a constant pressure of handling their daily life. This can cause deep emotional and psychological distress

How is Fountain Syndrome Treated?

Fountain Syndrome is a genetic disorder that cannot be cured. Proper supportive care with symptomatic treatment (and surgical intervention as necessary), and a modified lifestyle, can help manage the disorder to a certain degree. The treatment management measures are undertaken on a case-by-case basis. The measures could include:

  • Aggressive therapies that are initiated on diagnosis, which are related to physical, speech, and occupational therapy
  • Rectifying defects in severe cases, using surgical procedures and post-surgical therapeutic exercises. These include operations for correcting skull, spine, limb deformities, and plastic surgeries for facial features
  • Use of wheelchairs, splints, crutches, braces, and casts, to provide physical support and promote mobility
  • Infantile seizures are controlled using anti convulsant drug therapy

How can Fountain Syndrome be Prevented?

  • Currently there are no specific methods or guidelines to prevent Fountain Syndrome genetic condition
  • Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
  • 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

What is the Prognosis of Fountain Syndrome? (Outcomes/Resolutions)

  • Fountain Syndrome requires constant care, rigorous management therapies, and lifelong medical support. No specific treatment course exists and the disorder is treated symptomatically
  • Prognosis is dependent upon the severity of the symptoms an individual is afflicted with. There has been one particular recorded case, which was fatal

Additional and Relevant Useful Information for Fountain Syndrome:

Due to the extreme rarity of Fountain Syndrome, presently there are no specific voluntary organizations and support groups for the disorder. However, most non-for-profit groups that provide help, encouragement and understanding to those severely affected with mental and physical deformities, may be approached.

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Maulik P. Purohit MD MPH

Assistant Medical Director, Medical Editorial Board, DoveMed Team

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