[2] The disorder is also associated with shortness of stature and some evidence suggests that it can cause epilepsy.

[4] 90% of the individuals who are affected with the syndrome are female: the commonly accepted, though unconfirmed, explanation for this is that the non-mosaic hemizygous males are not viable.

[7] Management is targeted toward the various soft tissue and skeletal anomalies, with the goal of achieving optimal functional and cosmetic results.

[citation needed] The disorder was first formally recognized by dermatologists Max Jessner and Harold Newton Cole in the early 20th century.

[10] Goltz and Gorlin worked together at the University of Minnesota [11] and are credited for describing the symptoms of the disorder in more detail than ever before and tracking its genetic trends.