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.
Acrocardiofacial Syndrome; Richieri-Costa Orquizas
Approximately five cases have
been described. Autosomal recessive transmission has been suggested.
Parental consanguinity was noted in at least one case.
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
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
Facial features suggest airway management could be difficult.
Subacute bacterial endocarditis prophylaxis may be necessary.
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
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
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.