This fact sheet provides information about Coffin-Lowry Syndrome, its frequency, signs and symptoms, and treatment.

A fact sheet you can download and print, which provides information about Coffin-Lowry Syndrome, its frequency, and signs and symptoms.

This disease is a disability type-specific to section 24 of the NDIS Act.

Coffin-Lowry Syndrome Coffin-Lowry syndrome is a genetic condition that is characterised by intellectual disability. Individuals with Coffin-Lowry syndrome may have physical features such as large hands with short, thin fingers, short stature, small/underdeveloped upper jaw, prominent brow, and downward slanting eyelid folds.

The cause of this syndrome is a problem in the RSK2 gene, which plays an important role in the brain and its function.

Frequency

  • Incidence of Coffin-Lowry syndrome is unknown but is estimated to affect approximately 1 in 40, 000 to 50, 000 people.

Signs and Symptoms Symptoms tend to be more severe in males. Females may have symptoms on a spectrum from mild to severe.

 

Facial features

  •  Prominent forehead and eyebrows
  •  Downward slanting eyelid slits
  •  Wide-set eyes
  •  Broad nasal bridge

 

Limb features

  • Large, soft hands with tapered fingers
  • Shortened big toe
  • Bone abnormalities including shorter bones, or a sunken breast bone

 

Other features

  • Short stature
  • Small head
  • Hearing loss
  • Intellectual disability
  • In rare cases vision and heart problems

Treatment

There is no specific treatment for Coffin-Lowry syndrome.

Management of patients includes regular cardiac, hearing, and vision assessments References: Coffin-Lowry Syndrome.

Retrieved from National Organisation for Rare Disorders

Retrieved from GARD - Genetic and Rare Diseases Information Centre

Retrieved from PDF J Med Genet

 

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Resource: IDEAS

Download: pdfDisability Type: Coffin-Lowry Syndrome