Basal cell nevus syndrome is a rare condition which is inherited as an autosomal dominant trait. This means that if a child inherits the defective gene from either parent, he or she will have the disorder.
Children with this disease have wide set eyes, a broad nasal saddle, and a heavy protruding brow. They may also have a protruding jaw (prognathism). The hallmark of this disorder is the appearance of skin cancer (basal cell carcinoma) at or about puberty.
Nervous system involvement may include hydrocephalus (enlarged head), seizures, mental retardation, deafness, and brain tumors (medulloblastoma). Defects in the iris or lens of the eye, and blindness are manifestations that can affect the eyes.
Defects in the bones include cysts in the upper jaw (maxilla) and lower jaw (mandible) that may cause abnormal tooth development or spontaneous jaw fractures. Other bony defects may be associated with this condition, such as scoliosis (curvature of the back), kyphosis (severe curvature of the back), and rib abnormalities.
|