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Acro-cardio-facial syndrome
Maria Cristina Digilio1, Bruno Dallapiccola
1Division of Medical Genetics, Bambino Gesù Pediatric Hospital, IRCCS, Piazza S, Onofrio 4, 00165, Rome, Italy. maria.digilio@opbg.net
Insights
Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder with severe congenital anomalies. Most affected infants do not survive infancy, highlighting the critical need for further research into this condition.
Area of Science:
- Medical Genetics
- Clinical Genetics
- Rare Diseases
Background:
- Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder.
- It is characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and mental retardation.
- Most reported cases have poor survival rates, often not exceeding the first few months of life.
Purpose of the Study:
- To summarize the clinical characteristics, diagnosis, inheritance patterns, and prognosis of Acro-cardio-facial syndrome (ACFS).
- To highlight the diagnostic challenges and differential diagnoses for ACFS.
- To inform clinicians about the poor prognosis and management considerations for ACFS patients.
Main Methods:
- Literature review of reported cases of Acro-cardio-facial syndrome (ACFS).
- Clinical criteria for diagnosis were analyzed.
- Suggested inheritance patterns and recurrence risks were evaluated.
Main Results:
- Only 9 patients with ACFS have been described to date.
- The syndrome presents a wide spectrum of defects with significant variability.
- An autosomal recessive inheritance pattern is suggested, with a recurrence risk of up to 1 in 4 for parents.
Conclusions:
- Acro-cardio-facial syndrome (ACFS) is a severe genetic disorder with a poor prognosis.
- Diagnosis relies on clinical criteria as the genetic basis remains unknown.
- Management requires multidisciplinary specialist care, focusing on cardiac, respiratory, and feeding issues.
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.
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