BabyScreen+ newborn screening

Gene: PTCH1

I don't know

Well established gene-disease association.

Some features that present shortly after birth or during childhood include macrocephaly, facial features, and skeletal features. There is often some delay in motor milestones; however, most individuals catch up by about age five. The peak incidence of medulloblastoma is age 1-2 years, earlier compared to 7 years for the sporadic form. Medulloblastoma typically has a favorable prognosis and is more common in males. OKCs typically develop during the teenage years, though they can occur as early as 5 years, and rarely occur after age 30 years. Patients have, on average, 5 OKCs, but the number can range from 1 to 30. Ectopic calcification is present in most individuals by age 20 and usually does not result in clinical manifestations. Most individuals also develop BCCs with increasing frequency with age. These may occur in childhood, but in general do not present until the late teens or early adulthood with an average age of onset of 25 years.

Surveillance protocols are available. However, uncertain if these apply in early childhood? For review.

Created: 16 Dec 2022, 12:58 a.m. | Last Modified: 16 Dec 2022, 12:58 a.m.

Panel Version: 0.1496

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Basal cell nevus syndrome, MIM# 109400