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At a glance

A very rare syndrome characterized by craniosynostosis, midfacial hypoplasia, hypertrichosis, and anomalies of the heart (stenosis of the aortic and pulmonary valves), eyes, teeth, and external genitalia. Mental retardation has been observed.


Craniofacial Dysostosis, Genital, Dental, Cardiac Syndrome; Craniofacial Dysostosis, Hypertrichosis, Hypoplasia of Labia Majora Syndrome.


Gorlin-Chaudhry-Moss Syndrome is an extremely rare inherited disorder. The first case was reported in the medical literature in 1960.


Fewer than 10 cases have been reported in the literature. 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.

Genetic inheritance

Autosomal recessive.




Characteristic features include dental anomalies, multiple eye malformations, and craniofacial dysostosis with genital and cardiac anomalies.

Clinical aspects

Patients present with either normal intelligence or mild mental retardation and short stature. This complex polymalformative syndrome associates facial anomalies that involve eyes (microphthalmos, down-slanted fissures, coloboma of the eyelid, defect of lacrimal system), mouth (anodontia or oligodontia, high vaulted, narrow palate, cleft soft palate), ear (hypoplastic lobe and deafness), and skull (midface hypoplasia, brachycephaly, premature synostosis of the coronal sutures, hypertelorism, low hairline, and elevation of the lesser sphenoid wings). Other features include skeletal abnormalities (syndactyly of fingers, hypoplastic distal phalanges of hands and feet, and pectus excavatum), external female genitalia anomalies (hypoplasia of the labia majora, short vagina, and malformed uterus), umbilical hernia, hypertrichosis, and patent ductus arteriosus.

Precautions before anesthesia

Assess for signs of difficult intubation (clinical, radiographs) and evaluate cardiac function (clinical, echography, radiographs), particularly to determine size of the patent ductus arteriosus and the pulmonary artery pressure.

Anesthetic considerations

Careful intraoperative positioning is needed because of skeletal malformations. Face-mask ventilation and direct laryngoscopy can be difficult because of craniofacial anomalies. Venous access and pulse oximetry can be a challenge because of limb deformations and dermatoglyph modifications.

Pharmacological implications

Anesthetic drug choice must consider the existence of a patent ductus arteriosus with potentially increased pulmonary arterial pressures.

Other conditions to be considered

  • ☞Weill-Marchesani Syndrome: Rare inherited disorder of the connective tissue, characterized by the presence of brachycephaly, facial anomalies, brachydactyly, joints limited extension, and short stature. Ophthalmological manifestations are significant. There is no confirmation about its inheritance pattern, either autosomal dominant or recessive genetic trait.

  • ☞Saethre-Chotzen Syndrome (Acrocephalosyndactyly Type III): Rare inherited disorder characterized by craniosynostosis (plagiocephaly and/or brachycephaly). Craniofacial malformations are present, such as midface ...

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