This disorder is caused by an abnormality of the TBCE gene, the locus for which is on Chromosome 1q42.3. The locus is a 230 kb region of gene with identified deletions and mutations in affected individuals. There are rare cases of the disorder not being due to a TBCE gene abnormality.
Sanjad-Sakati syndrome
Gómez–López-Hernández syndrome
Okamoto syndrome
Grisel's syndrome
Mungan syndrome
Naegeli–Franceschetti–Jadassohn syndrome
Senior–Løken syndrome
Pashayan syndrome