The hallmark of this disorder is the appearance of a type of skin cancer known as basal cell carcinoma at or around puberty.

Symptoms include:

• Broad nose
• Heavy, protruding brow
• Jaw that sticks out (in some cases)
• Wide-set eyes

The condition may affect the nervous system and lead to:

• Blindness
• Deafness
• Mental retardation
• Seizures

The condition also leads to bone defects, including:

• Curvature of the back (scoliosis)
• Severe curvature of the back (kyphosis)

The person may have a family history of basal cell nevus syndrome and several basal cell skin cancers in the past.

Tests may reveal:

• Brain tumors
• Cysts in the jaw, which can lead to abnormal tooth development or jaw fractures
• Defects in the colored part (iris) or lens of the eye
• Head swelling due to fluid on the brain (hydrocephalus)
• Rib abnormalities

Tests that may be done include:

• Genetic testing (in some patients)
• Skin biopsy of tumors
• X-rays