Acro-cardio-facial syndrome

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.

Figure 1

Facial and limb features of two patients with the acro-cardio-facial syndrome: A, B, C, E: patient reported by Mingarelli et al., 2005 [4]; D: patient reported by Giannotti et al., 1995 [2](2a in Table 1). A: Lateral total body view; B: Facial appearance of patient 4, showing high forehead, prominent eyes, long eyelashes, hypertelorism, broad nasal root; C: Ectrodactyly of right hand; D: Facial appearance of patient 2a, showing high forehead, broad nasal root, low-set dysmorphic ears; E: X-ray of right foot, showing split foot malformation with five metatarsal (including a very hypoplastic second metatarsal) and absence of all the phalanges of second and third toes.