The diagnosis may be suspected on the basis of the constellation of clinical features. It is made by sequencing the P4HB, SEC24D and CRTAP genes. Differential diagnosis * Pfeiffer<unk>  * Osteogenesis imperfecta * Osteoglophonic dwarfism
Cole-Carpenter syndrome
McGillivray syndrome
Nicolau–Balus syndrome
Brunner syndrome
Satoyoshi syndrome
Mungan syndrome
Achard–Thiers syndrome
Bart–Pumphrey syndrome