There are three forms of this syndrome. Type 1 has mutations in the protein disulfide-isomerase (P4HB) gene located on the long arm of chromosome 17 (17q25). Type 2 have mutations in the protein transport protein Sec24D (SEC24D) gene located on the long arm of chromosome 4 (4q26). A third type has been described with a mutation in the cartilage associated protein (CRTAP) located on the short arm of chromosome 3 (3p22.3). Clinically these forms are very similar and are best differentiated by gene sequencing. The third patient (first female) diagnosed with this condition, gene sequencing shows no abnormalities.
Cole-Carpenter syndrome
McGillivray syndrome
Nicolau–Balus syndrome
Brunner syndrome
Satoyoshi syndrome
Mungan syndrome
Achard–Thiers syndrome
Bart–Pumphrey syndrome