Patients can present to different specialists, depending on the first sign of the syndrome. It is very common for families to remain undiagnosed for several generations despite have been seen by doctors from a variety of disciplines.

Diagnosis in a child at 50% risk of having inherited the condition may not be easy because of the extreme variation in expression, both within and between families. Some children many have on rib anomalies whilst other have the 'typical face' without other signs.  Gene tracking and mutation analysis may be helpful for presymptomatic diagnosis.

For apparently isolated cased, detailed examination and x-ray investigation of the parents should be undertaken before concluding that a child's condition is the result of a new mutation.  If an adult has no physical signs, no pertinent history and normal radiology, it is unlikely that he or she has Gorlin Syndrome. Direct mutation analysis of the gene may be helpful.

Confident diagnosis is obviously, vital for subsequent surveillance for complications such as BCCs and jaw cysts, and for giving genetic information. Clinically it relies on a detailed family history, and physical and x-ray examinations.

Physical examination

Particularly helpful are skeletal anomalies, typical faces, naevi and palmar and plantar pits. The most valuable measurement is the head circumference. Measurements should also include height, inner and outer canthal and interpupillary distances. The head circumference should be plotted on a chart which takes height into account.

X-ray and imaging investigations

X-ray signs may aid diagnosis in those who have equivocal physical signs. X-rays should include:

• Skull - A.P.
• Skull - lateral
• Panoramic views of the jaws (plain films may miss lesions)
• Chest x-ray
• Cervical and thoracic spine - A.P. and lateral
• Ultrasound examinations for ovarian and cardiac fibromas may be helpful according to age.