ACCES syndrome

Definition

A rare congenital disease caused by a mutation in the UBA2 gene, charcterized by scalp defects, digital and skeletal anomalies, early growth deficiency, and neurodevelopmental delay. Ectrodactyly presents in some cases.

Also known as aplasia cutis congenita with ectrodactyly skeletal syndrome, UBA2-related neurodevelopmental disorder, aplasia cutis congenita with ectrodactyly skeletal syndrome — per MONDO

Also identified as

• OMIM 619959 per MONDO
• UMLS C5677019 per MONDO