[MIM 233 500]

(GCM syndrome, Craniofacial dysostosis - genital, dental and cardiac anomalies syndrome)

Very rare. Since all the reported cases so far are female, it is possible that this syndrome is due to a de novo mutation  of X chromosome with inactivation of the other X.

Craniosynostosis (brachycephaly and hypoplasia of midface) associated with:

-         microphthalmia, hypodontia 

-         arched palate, sometimes velar cleft or bifid uvula

-         hypertrichosis 

-         short toes and fingers

-         hypoplasia of the labia majora in the girl

-         patent ductus arteriosus

-         conduction deafness

-         developmental delay (squat and massive body), and sometimes a moderate mental retardation

Anesthetic implications: 

obstructive apnea ?; possible difficult intubation; echocardiography to exclude the presence of pulmonary arterial hypertension.

References : 

-        Rosti RO, Karaer K, Karaman B, Torun D, Guran S, Bahce M. 
Gorlin-Chaudrhy-Moss syndrome revisited : expanding the phenotype. 
Am J Med Genet Part A ; 2013 ; 161A :1737-42

-         Sculerati N, Gottlieb MD, Zimbler MS, Chibbaro PD, McCarthy JG. 
Airway management in children with major craniofacial anomalies. 
Laryngoscope 1998; 108:1806-12.

Updated: April 2019