Gorlin-Chaudhry-Moss syndrome

background

Gorlin-Chaudhry-Moss (GCM) syndrome is a form of ectodermal dysplasia, one of a group of syndromes deriving from abnormalities of the ectodermal structures, which include the hair, teeth, nails, sweat glands, cranial-facial structure, and hands. These are genetic disorders that can be inherited in an autosomal dominant or recessive manner.
GCM is characterized by premature closure of the fibrous joints, or sutures, between certain bones in the skull (craniosynostosis), unusually small eyes (microphthalmia), absence of some teeth (hypodontia), and excessive amounts of hair (hypertrichosis) on most areas of the body. Affected individuals may also exhibit a mild delay in physical development (growth retardation); short fingers and toes; and underdevelopment (hypoplasia) of the two long folds of skin on either side of the vaginal opening (labia majora) in females. In addition, there may be an abnormal opening between the two large blood vessels that carry blood away from the heart, also known as the pulmonary artery and aorta, which can cause patent ductus arteriosus, an inappropriate recirculation of some blood through the lungs, rather than throughout the rest of the body. Some people with GCM may have delayed growth and hearing loss. Some may have mild intellectual disabilities, while others may be of normal intelligence.
GCM syndrome is inherited or passed down among family members. Although the genetic mutation or defect that causes GCM is unknown, the disorder is believed to be inherited as an autosomal recessive trait, meaning that two copies of the defective gene, one from each parent, must be inherited for the disease to appear.
GCM is extremely rare with about four known cases documented in the scientific literature. Incidence of the disorder is unknown. The disorder was first described by Gorlin in 1960 in two sisters, who were followed up by another researcher in 1992 at the ages of 34 and 36 years old.

Related Terms

Craniofacial dysostosis hypertrichosis hypoplasia of labia majora, craniofacial dysostosis-PD arteriosus-hypertrichosis-hypoplasia of labia, craniosynostosis-hypertrichosis-facial and other anomalies, dental and eye anomalies, ectodermal dysplasia, GCM syndrome, patent ductus arteriosus.