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
- 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 siblings 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 siblings in some families.
A one in four recurrence risk of transmitting the disease seems to be appropriate for the parents of an affected child. Management of affected patients includes treatment of cardiac, respiratory, and feeding problems by neonatal pediatricians and other specialists.
Source: 7thspace.com
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