Abstract
Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and mental retardation. Up to now, 9 patients have been described, and most of the reported cases were not surviving the first days or months of age. The spectrum of defects occurring in ACFS is wide, and both interindividual variability and clinical differences among sibs have been reported. The diagnosis is based on clinical criteria, since the genetic mechanism underlying ACFS is still unknown. The differential diagnosis includes other disorders with ectrodactyly, and clefting conditions associated with genital anomalies and heart defects. An autosomal recessive pattern of inheritance has been suggested, based on parental consanguinity and disease's recurrence in sibs in some families. The more appropriate recurrence risk of transmitting the disease for the parents of an affected child seems to be up to one in four. Management of affected patients includes treatment of cardiac, respiratory, and feeding problems by neonatal pediatricians and other specialists. Prognosis of ACFS is poor.
Highlights
Definition Acro-cardio-facial syndrome (ACFS, Online Mendelian Inheritance in Man (OMIM) 600460) is a rare genetic disorder characterized by split-hand/ split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and mental retardation
The spectrum of defects occurring in ACFS is wide, and both interindividual variability and clinical differences among sibs have been documented
Neurological anomalies The prevalence of mental retardation in ACFS is at present unknown, due to early demise of the majority of these patients
Summary
Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and mental retardation. Definition Acro-cardio-facial syndrome (ACFS, OMIM 600460) is a rare genetic disorder characterized by split-hand/ split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and mental retardation. We are aware of an additional Turkish patient born to consanguineous parents (Kayresili, personal communication 2009), presenting with SHFM, aortic stenosis, cleft palate, hypoplastic corpus callosum, and atretic ears. ACFS is a lethal disorder as shown by the early demise in the first months of life in most of these patients.
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