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.
Gorlin-Chaudhry-Moss syndrome is characterized by a mild delay in physical development (growth retardation), short stature, mild mental retardation, and several physical abnormalities.
In Gorlin-Chaudhry-Moss syndrome, premature closure of the fibrous joints (coronal sutures) between bones in the front (frontal bone) and sides (parietal bones) of the skull (craniosynostosis) may cause the head to appear abnormally short (brachycephaly). In addition, the middle portion of the face may be underdeveloped (midface hypoplasia), causing these areas (e.g., forehead, nose, and/or chin) to appear flat. Additional abnormalities of the head and facial (craniofacial) area may also be present, such as unusually small eyes (microphthalmia); downwardly slanting eyelid folds (palpebral fissures); incomplete development of the bones in the jaw (maxillary hypoplasia); and/or an abnormally narrow, highly arched roof of the mouth (palate). Individuals with Gorlin-Chaudhry-Moss syndrome may also have several abnormalities of the teeth. Some teeth may be absent (hypodontia), unusually small (microdontia), and/or abnormally shaped. Teeth may also be improperly positioned (malocclusion), causing difficulties in chewing (mastication). With time, some affected individuals may exhibit a thickening or coarsening of facial features.
Infants with Gorlin-Chaudhry-Moss syndrome often exhibit several abnormalities involving the hair. The hairline may be abnormally low on the scalp (low frontal hairline) and the hair may be unusually coarse. In addition, affected infants may have excessive amounts of hair (hypertrichosis) on most areas of the body including the face, scalp, hands, feet, arms, and/or legs.
Affected individuals often have numerous skeletal abnormalities such as underdevelopment (hypoplasia) of the bones at the end of the fingers and toes (distal phalanges) and/or the bones between the wrist and the fingers (metacarpals). As a result, the hands, fingers, and toes may appear abnormally short.
Many individuals with Gorlin-Chaudhry-Moss syndrome also exhibit additional malformations. In affected females, the two long folds of skin on either side of the vaginal opening may be underdeveloped (labia majora hypoplasia). In addition, in some cases, there may be an abnormal opening between two large blood vessels that carry blood away from the heart (pulmonary artery and aorta); as a result, some blood may recirculate through the lungs, rather than throughout the rest of the body (patent ductus arteriosus). If a large amount of blood is misdirected to the lungs, the heart may become strained as it works to pump sufficient amounts of blood to the rest of the body. Affected infants may therefore exhibit an increased heart rate (tachycardia), enlargement of the heart (cardiomegaly), shortness of breath, and/or a failure to gain weight. They may also have an increased susceptibility to respiratory infections and/or bacterial infections causing inflammation of the heart’s lining (bacterial endocarditis), and in some cases, a reduction in the heart’s ability to pump blood efficiently (congestive heart failure).
In some infants with Gorlin-Chaudhry-Moss syndrome, portions of the intestine may protrude through an abnormal opening in the abdominal wall where the umbilical cord joined the fetus’ abdomen (umbilical hernia). In addition, in some affected individuals, sound may be inappropriately conducted through the external or middle ear to the inner ear; as a result, there may be a decreased sensitivity to sound (conductive hearing loss).
It is believed that Gorlin-Chaudhry-Moss syndrome may be inherited as an autosomal recessive trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother.
Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the defective gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25%.
Gorlin-Chaudhry-Moss syndrome is an extremely rare inherited disorder that is apparent at birth (congenital). Approximately four cases have been reported in the medical literature. Although all reported cases have involved females, the true ratio of affected females to males is not known. The first case of Gorlin-Chaudhry-Moss syndrome was reported in the medical literature in 1960.
Gorlin-Chaudhry-Moss syndrome may be diagnosed at birth, based upon a thorough clinical evaluation and characteristic physical findings. The presence of patent ductus arteriosus occurring in association with Gorlin-Chaudhry-Moss syndrome may be determined by a variety of tests. When an abnormal heart murmur is detected, chest X-rays may be ordered along with an electrocardiogram (ECG), a test that measures the heart muscle's electrical activity. Structural and functional abnormalities of the heart and its blood vessels can be analyzed through the reflection of sound waves (echocardiogram). Conductive hearing loss occurring in association with Gorlin-Chaudhry-Moss syndrome can be diagnosed by a battery of tests that measures the functioning of the middle ear (conductive loss battery).
The treatment of Gorlin-Chaudhry-Moss syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, surgeons, cardiologists, dental specialists, speech pathologists, specialists who assess and treat hearing problems (audiologists), eye specialists, and others may need to systematically and comprehensively plan an affected child's treatment.
Surgery may be performed in some cases to correct craniofacial abnormalities. Partial or complete dentures, oral surgery, and/or other steps may be used to correct, restore, and/or replace absent tooth structure or oral tissues (dental restoration). In affected individuals who exhibit conductive hearing loss, treatment may consist of surgery and/or the use of certain hearing aid devices, depending upon the specific middle ear abnormality causing the hearing loss. In those with microphthalmia, physicians who diagnose and treat diseases of the eye (ophthalmologists) may use a variety of methods to treat, prevent, and/or correct any visual abnormalities potentially associated with this condition.
In affected infants with patent ductus arteriosus who are born prematurely, the abnormal heart opening may close on its own. If the opening does not close spontaneously, therapy with the drug indomethacin may facilitate such closure. If such drug therapy is not effective, surgery may be performed.
Individuals with patent ductus arteriosus may be susceptible to bacterial endocarditis, an infection that causes inflammation of the heart's lining. Preventive steps should be taken to avoid such episodes of infection. For example, antibiotic drug therapy may be given prior to any procedure that could allow bacteria to enter the bloodstream (e.g., dental procedures, invasive diagnostic procedures, surgery). If bacterial endocarditis occurs, antibiotic therapy must be given immediately.
In affected infants who have an umbilical hernia, the abnormal opening in the abdominal wall often closes on its own within the 1st or 2nd year of life. However, if the hernia is large, it may need to be closed surgically.
Early intervention is also important in ensuring that children with Gorlin-Chaudhry-Moss syndrome reach their potential. Special services that may be beneficial to affected children may include physical therapy, special remedial education, speech therapy, and other medical, social, and/or vocational services.
Genetic counseling will be of benefit for affected families. Other treatment is symptomatic and supportive.
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McKusick VA, ed. Online Mendelian Inheritance in Man (OMIM). Baltimore. MD: The Johns Hopkins University; Entry No:233500; Last Update:6/11/99.
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