Craniofacial Syndromes Rarely Gorlin-Chaudhry-Moss Syndrome

Gorlin-Chaudhry-Moss, or GCM, is an inherited disorder that falls under the umbrella of craniofacial syndromes. While the fetus is in utero, premature closure between bones in the skull occurs, and that is just one of the complications of GCM.

Once born, the child will have very small eyes, hypertrichosis (excessive hair) on the body, and missing teeth that may be abnormally small. The malformation of the skull often results in ophthalmic difficulties, so proper care is necessary to maintain the patient’s vision and should be included in a life-long care plan. It’s essential that an ophthalmologist be included as part of the medical team.

Children with GCM may be developmentally delayed, have short toes and fingers, and cardiac problems that result in an impediment in the circulation of blood through the lungs. Mild intellectual disorders are also notable.

CGM is extremely rare; only four cases have been identified in medical literature, and all were female. It was first identified in 1960. So, the following resources are not only for the GCM community, but also for anyone who has or is caring for a loved one with craniofacial deformities.

  • National Foundation for Ectodermal Dysplasias
    Tel: (618)566-2020
    Email: info@nfed.org
    Internet: http://www.nfed.org
  • Children’s Craniofacial Association
    Tel: (800)535-3643
    Email: contactCCA@ccakids.com
    Web: http://www.ccakids.com
  • FACES: The National Craniofacial Association
    Tel: (800)332-2373
    Email: faces@faces-cranio.org
    Web: http://www.faces-cranio.org
  • NIH/National Institute of Dental and Craniofacial Research
    Tel: (866)232-4528
    Email: nidcrinfo@mail.nih.gov
    Web: http://www.nidcr.nih.gov/

Erica Zahn

Erica Zahn

Erica Zahn is passionate about raising awareness of rare diseases and disorders and helping people connect with the resources that may ease their journey. Erica has been a caregiver, and is a patient, herself, so she completely relates to the rare disease community--on a deeply personal level.

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