Acro-cardio-facial syndrome

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.