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
Resource: IDEAS
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Disability Type: Coffin-Lowry Syndrome
