Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly

Clinical Features

Richieri-Costa and Orquizas (1987) reported the case of a Brazilian boy, born to healthy, consanguineous parents, who was affected by a constellation of malformations including ectrodactyly, cleft lip/palate, congenital heart defect, genital anomalies, and mental retardation. Giannotti et al. (1995) reported a brother and sister, offspring of nonconsanguineous parents, with the same combination of cleft palate, cardiac defect, genital anomalies, and ectrodactyly (CCGE). They suggested that this is an autosomal recessive disorder.

Guion-Almeida et al. (2000) reported a male patient with a constellation of malformations, including cleft lip/palate, abnormal ears, ectrodactyly, congenital heart defect (coarctation of the aorta and a patent ductus arteriosus; see 607411), delayed psychologic development, and growth retardation that was prenatal in origin. The patient died at 4 months of age. CT scan of the brain showed cerebral atrophy and enlarged cisterna magna. Guion-Almeida et al. (2000) proposed the name acrocardiofacial syndrome for this condition.

Mingarelli et al. (2005) reported an affected male infant who died at age 1 month from cardiorespiratory failure. He was hypotonic with mild facial dysmorphism, including high forehead, broad nasal bridge and bulbous nasal tip, slight hypertelorism, long and thin high-arched palate, and receding chin. Ears were low-set with thin upper helices, prominent and vertical anthelices, and large lobes. He had hypoplastic scrotum and cryptorchidism. There was a cleft right hand with agenesis of the third finger. X-ray studies showed multiple abnormalities, including a digitalized first finger, splitting of the proximal third digit phalanx, unilateral split foot malformation with partially fused fourth and fifth toes and with absence of all phalanges of the second and third toes. There were 11 rib pairs. Echocardiography showed ventricular septal defect, truncus arteriosus, and stenotic truncal valve. In a literature review of patients with CCGE, Mingarelli et al. (2005) noted that ectrodactyly was the main common characteristic, and they emphasized the extreme clinical variability of the disorder.

Tanpaiboon et al. (2009) reported a 14-year-old Thai boy with cleft lip and palate, congenital cardiac defects, including ventricular septal defect, tetralogy of Fallot, and absent left pulmonary artery, and ectrodactyly of the left hand with absence of the second and third finger. Dysmorphic features included hypertelorism, protruding ears, and hypoplastic lower crus of the antihelices. He also had poor growth, clubbing of the fingers and toes, shawl scrotum, micropenis, and moderate mental retardation. Unusual features included mild scoliosis, hemivertebrae, and subclinical hyperthyroidism. Genetic analysis excluded pathogenic mutations in the coding region of the TP63 gene (603273).