Deafness-epiphyseal dysplasia-short stature syndrome
Deafness-epiphyseal dysplasia-short stature syndrome
Definition
This syndrome is characterized by sensorineural deafness, short stature, femoral epiphyseal dysplasia, umbilical and inguinal hernias and developmental delay (growth retardation and mild intellectual deficit).
Also known as chitty-Hall-Baraitser syndrome — per MONDO