Summary
This syndrome is characterised by ectrodactyly, cleft lip and/or palate, a congenital heart defect, genital anomalies, and intellectual deficit. So far, it has been reported in five infants (four boys and one girl) from three families. The ectrodactyly is a cleft hand possibly associated with syndactyly of digits II-III. The facial cleft may be either a median cleft palate or a lateral cleft lip and palate. Other facial dysmorphic features are usually present: hypertelorism, proeminent eyes, a broad nasal root, and malformed ears. Corneal clouding was reported in one of the patients. The congenital heart defects are heterogeneous: simple ventricular septal defect, complex cardiac anomaly with atrial septal defect and hypoplastic left heart, or coarctation aortae. Genital anomalies (hypospadias with micropenis and ectopia testis) were present in some of the patients. Growth retardation was constant, and delayed neuropsychological development was observed in two infants in whom magnetic resonance imaging revealed mild cerebral atrophy and enlarged cisterna magna. As in one case the parents were healthy and consanguineous and in two families there were two affected sibs, an autosomal recessive disorder is likely. This syndrome is distinct from the EEC syndrome (see this term) because no ectodermal features have been reported. The prognosis is variable but three out of the five children died in the first few weeks of life due to their cardiac defect *Author: Orphanet (May 2004)*.
