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At a glance

An extremely rare, inherited disorder with malformations of head, heart, genitalia, and limbs. CCGE is an acronym that stands for Cleft palate, Cardiac defect, Genital anomalies, and Ectrodactyly.

Synonyms

Acro-cardio-facial Syndrome; Richieri–Costa-Orquizas Syndrome.

Incidence

Unknown. Approximately 12 cases have been described to date.

Genetic inheritance

Autosomal recessive transmission has been suggested. Parental consanguinity was noted in some cases. There is wide inter-individual and intrafamilial variability with ectrodactyly being the only feature present in all affected patients. Recently, interstitial microdeletions of the 6q21-q22 region have been proposed as the underlying genetic defect in CCGE Syndrome.

Diagnosis

Based on the clinical findings with the major diagnostic criteria being split-hand/split-foot malformation and congenital cardiac disease.

Clinical aspects

The anomalies affect several organ systems. Prenatal (with oligo- or polyhydramnios) and/or postnatal growth retardation and psychomotor retardation appear to be frequent features. Cerebral and neurologic anomalies may consist of mental retardation, cortical brain atrophy, enlarged lateral ventricles and cisterna magna, cerebral neuroepithelial cyst, seizures, hypo- or hypertonia. Craniofacial dysmorphism with scapho-, dolicho-, or brachycephaly, high forehead, long and low-set ears with underdeveloped helices (in all patients), orbital fullness, downslanting palpebral fissures, hypertelorism, blepharophimosis, long eyelashes, flat nose with small nostrils, flat philtrum, micro- and/or retrognathia, narrow arched and/or cleft (lip) palate (uni- or bilateral), microstomia, thin lips, and short neck. Cardiac lesions are present in two-thirds of patients and may include tetralogy of Fallot, truncus arteriosus Type 1 with dysplastic and stenotic truncal valve, atrial and/or ventricular septal defects, coarctation of the aorta, patent ductus arteriosus, mitral valve atresia, and absence of left pulmonary artery. Genital findings noted are hypospadias, micropenis, hypoplastic scrotum, and cryptorchidism. Described skeletal anomalies include ectrodactyly (almost always bilateral split-hand is present in all patients/split-foot malformation is one-third of patients), oligodactyly, syndactyly of fingers and toes, subluxation of metacarpophalangeal joints, and finger flexion in the proximal interphalangeal joints. Death in the first weeks of life occurred in more than half of patients and was caused by cardiac anomalies. To date, only three patients survived past the first 4 months of life with the oldest patient to date having been 25 years old at the time of the report.

Precautions before anesthesia

A thorough assessment for difficult airway management is required given the craniofacial anomalies. Cardiac function and anatomy must be determined preoperatively (clinically, echocardiography, electrocardiography) and a chest x-ray may be indicated. Routine preoperative blood work should be sufficient. Developmental delay may cause agitation and stress in the perioperative period, thus anxiolytic and sedative premedication and/or presence of a parent (or primary caregiver) for induction of anesthesia may be beneficial. However, depending on the presence and type of cardiac defect, judicious dosing followed by constant ...

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