Talk about rare diseases/ disorders/ conditions/ syndromes… there are only seven (SEVEN!!) documented cases of Gorlin Chaudhry Moss syndrome (GCM) in the world. All females. So, does as it come as a surprise that very little is known about GCM? I didn’t think so.
What is known is that it’s a genetic disorder.
When a fetus is developing, and the bones in the skull close too soon, facial and cranial malformations can be the result. This includes smaller than average eyes. Children with the syndrome can have intellectual disabilities, hirsutism, and are prone to heart defects.
Treatments are targeted to correcting heart, dental, and eye defects, but with that said, because of its rarity, there is no diagnostic protocol in place or established treatments.
Genetic counseling can tell whether one or both parents carries the gene for GCM, but there is no way to really tell if the offspring will have this condition.
Some of the symptoms of GCM include:
- Facial deformities
- Short fingers and toes
- Mild growth delays
- Inability to fully open and close eyes
- Vision problems
If you are among the small population affected by Gorlin Chaudhry Moss syndrome, don’t despair because help is available. Contact either of the following organizations, both of which are members of the National Organization of Rare Diseases:
- Children’s Craniofacial Association
- National Foundation for Ectodermal Dysplasias