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Chudley Rozdilsky Syndrome

What is Chudley Rozdilsky syndrome?

Chudley Rozdilsky syndrome is a rare genetic syndrome characterized by short stature, mental retardation, degeneration of muscle fibers (myopathy), and insufficient production of sex hormones (Hypergonadotrophic Hypogonadism).

What are the symptoms of Chudley Rozdilsky syndrome?

Symptoms known to be associated with Chudley Rozdilsky syndrome include:

  • Short stature
  • Small head
  • Curved fifth finger
  • Mental retardation
  • Delayed puberty
  • Long arms and legs
  • Weak eye muscles
  • Muscular diseases

What causes Chudley Rozdilsky syndrome?

Chudley Rozdilsky syndrome is a rare inherited defect.  Research is currently underway to determine the exact cause of this syndrome.

Are there treatment options for Chudley Rozdilsky syndrome?

Treatment options for Chudley Rozdilsky syndrome are currently being researched.  Currently there is only one drug approved by the FDA.  This medication is used to treat infertility in females with this syndrome. It is also suggested that individuals with Chudley Rozdilsky syndrome and those within their support system seek out support groups and resources to assist in the challenges face with this syndrome.

Where can I find more information about Chudley Rozdilsky syndrome?

Chudley Rozdilsky Syndrome Articles