Gorlin Chaudhry Moss Syndrome (GCM)

What is Gorlin Chaudhry Moss syndrome?

Gorlin Chaudhry Moss syndrome (a.k.a. GCM syndrome or craniofacial dysostosis) is a rare genetic disease that causes facial abnormalities and underdevelopment of the body and extremities like fingers and toes.

GCM is so rare that it is unknown how many men and women are affected by it.  Four cases have been reported.

What are the symptoms of Gorlin Chaudhry Moss syndrome?

GCM syndrome symptoms include:

• Feet and metacarpal bones abnormalities
• Cognitive and hearing impairment
• Coarse hair and low hairline
• Underdeveloped mid-face
• Flattened forehead, nose and chin
• Small eyes
• Teeth abnormalities
• Learning disabilities
• Heart and lung issues

What causes Gorlin Chaudhry Moss syndrome?

GCM syndrome is genetic disease, where both parents must carry the mutation for it to manifest in symptoms. If an individual gets the mutation from one parent, then they won’t have symptoms but will be a carrier.

How is Gorlin Chaudhry Moss syndrome diagnosed?

GCM syndrome is usually diagnosed at birth through clinical evaluation. Doctors may also test for heart and hearing abnormalities.

What treatments are available for Gorlin Chaudhry Moss syndrome?

GCM syndrome treatments aim to manage symptoms. GCM syndrome treatments include:

• Surgery to address facial abnormalities
• Dental care
• Hearing aids
• Visual aids
• Surgery to correct heart issues
• Antibiotics
• Physical therapy
• Speech therapy
• Remedial education
• Genetic counseling

Where can I find out more about GCM?

• NORD
• NIH