Rubinstein-Taybi syndrome
Rubinstein-Taybi syndrome
Definition
A rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioral characteristics.
Also known as Broad thumb-hallux syndrome, Broad thumbs-halluces syndrome, Rubinstein-Taybi Syndrome — per MONDO