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Extremely rare, inherited disorder combining malformations of head, heart, genitalia, and limbs. CCGE is an acronym for cleft palate, cardiac defect, genital anomalies and ectrodactyly.

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Acrocardiofacial Syndrome; Richieri-Costa Orquizas Syndrome.

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Approximately five cases have been described. Autosomal recessive transmission has been suggested. Parental consanguinity was noted in at least one case.

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Findings may involve the head and neck (scaphocephaly, high forehead, blepharophimosis, flattened nose and philtrum, small mouth and nostrils, micrognathia and/or retrognathia, narrow arched palate, cleft palate, thin lips, long and low-set ears, short neck), the heart (hypoplastic left heart syndrome, atrial septal defects, ventricular septal defects, coarctation of the aorta, patent ductus arteriosus, mitral valve prolapse), the central nervous system (mental retardation, cerebral atrophy, enlarged cisterna magna), the genitalia (hypospadias, micropenis, hypoplastic scrotum, cryptorchidism), and the limbs (oligodactyly, cleft hand, syndactyly of toes). Other features may include oligohydramnios and intrauterine growth retardation. Death in the first weeks of life occurred in more than half of patients and was caused by cardiac anomalies.

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Anesthesia in this condition has not been described. Cardiac function and anatomy must be determined preoperatively (clinically, echocardiography, electrocardiography). Congenital cardiac lesions warrant specific anesthetic precautions and management. Facial features suggest airway management could be difficult.

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Subacute bacterial endocarditis prophylaxis may be necessary.

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Ectrodactyly, Ectodermal Dysplasia, and Clefting (EEC) Syndrome: Autosomal dominant inherited syndrome with ectodermal dysplasia and craniofacial and urogenital anomalies. Occasionally, mental retardation and central diabetes insipidus are present.

Giannotti A, Digilio MC, Mingarelli R, et al: An autosomal recessive syndrome of cleft palate, cardiac defect, genital anomalies, and ectrodactyly (CCGE). J Med Genet 32:72, 1995.  [PubMed: 7897634]
Guion-Almeida ML, Zechi-Ceide RM, Richieri-Costa A: Cleft lip/ palate, abnormal ears, ectrodactyly, congenital heart defect, and growth retardation: Definition of the acro-cardio-facial syndrome. Clin Dysmorph 9:269, 2000.  [PubMed: 11045583]
Richieri-Costa A, Orquizas LC: Ectrodactyly, cleft lip/palate, ventricular septal defect, micropenis and mental retardation in a Brazilian child born to consanguineous parents. Rev Bras Genet 10:787, 1987.

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