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Gorlin-Chaudhry-Moss Syndrome

Abstract

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Synonyms of Gorlin-Chaudhry-Moss Syndrome

  • Craniofacial Dysostosis-PD Arteriosus-Hypertrichosis-Hypoplasia of Labia
  • Craniosynostosis-Hypertrichosis-Facial and Other Anomalies
  • GCM Syndrome

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Gorlin-Chaudhry-Moss syndrome is an extremely rare inherited disorder characterized by premature closure of the fibrous joints (sutures) between certain bones in the skull (craniosynostosis), unusually small eyes (microphthalmia), absence of some teeth (hypodontia), and/or 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/or toes; and/or 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 (pulmonary artery and aorta), causing inappropriate recirculation of some blood through the lungs, rather than throughout the rest of the body (patent ductus arteriosus). In some cases, mild mental retardation may also be present. It is believed that Gorlin-Chaudhry-Moss syndrome may be inherited as an autosomal recessive trait.

Organizations related to Gorlin-Chaudhry-Moss Syndrome

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