Coffin-Lowry Syndrome

Overview

A rare, X-linked INTELLECTUAL DISABILITY syndrome that results from mutations in the RIBOSOMAL PROTEIN S6 KINASE gene. Typical manifestations of the disease include an intelligence quotient of less than 50, facial anomalies, and other malformations.

This information is general and should not be treated as medical advice. Always speak directly with a qualified healthcare professional before making decisions about treatment, diagnosis, procedures, medicines or care.

Quick facts about Coffin-Lowry Syndrome

Topic type

Condition

Category

Neurology

MeSH classification

C10.597.606.360.455.249|C16.320.322.500.249|C16.320.400.525.249

Preparing for an appointment about Coffin-Lowry Syndrome

If you are speaking with a healthcare professional about Coffin-Lowry Syndrome, it can help to prepare a few details in advance.

• Write down your symptoms and when they started.
• Bring details of any medicines, supplements or previous treatments.
• Ask what tests or assessments may be needed.
• Ask what treatment or management options may be suitable.
• Ask when you should seek urgent medical help or follow-up care.

Finding care related to Coffin-Lowry Syndrome

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