An acro-cardio-facial syndrome characterized at adult age: a case report

Abstract

Acrocardiofacial syndrome (ACFS) is a rare recessive autosomal disease first described at the end of the 80’. Since only a few cases have been acknowledged. It is characterized by ectrodactyly, facial, cardiac, genital and growth anomalies. The sentence is usually death at a young age. We report the case of a 20-year-old African woman, single, presenting with stage 2 NYHA dyspnea who was seen for the invalidity registration. Her physical exam found facial, cardiac and spinal malformations as well as ectrodactyly and growth retardation. The respiratory functional test found a restrictive pattern. There was no genital anomaly nor intellectual delay. All these were suggestive of ACFS. ACFS need to be recognized during pregnancy or at birth. This patient, contrary to others, was diagnosed at an adult age and presents specificities such as aortic stenosis (never described) and mild to severe scoliosis. Physiotherapy, orthopaedic treatment and psychotherapy, as well as a good follow-up, could help to slow the degradation due to this disease.