/deafness-epiphyseal dysplasia-short stature syndrome

deafness-epiphyseal dysplasia-short stature syndrome

Rare Disease

MONDO:0011047

Also Known As

chitty-Hall-Baraitser syndromedeafness, epiphyseal dysplasia, short staturedeafness, femoral epiphyseal dysplasia, short stature and developmental delaygrowth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction

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).