A diagnosis of NBCC is made in the presence of two major or one major and two minor criteria

Major criteria

1) More than two BCCs or one BCC in a patient younger than 20 years

2) Odontogenic keratocysts of the jaw bone proven by histological findings

3) Three or more palmar or plantar pits

4) Bilamellar calcification of the falx cerebri

5) Bifid, fused, or markedly splayed ribs

6) First-degree relative with NBCC syndrome

Minor criteria

Any one of the following features:

1) Macrocephaly determined after adjustment for height

2) Congenital malformations: cleft lip or palate, frontal bossing, coarse facial features (“coarse face”), and moderate or severe hypertelorism

3) Other skeletal abnormalities: Sprengel deformity, marked pectus deformity, marked syndactyly of the digits

4) Radiological abnormalities: bridging of the sella turcica, vertebral anomalies such as hemivertebrae, fusion or elongation of the vertebral bodies, modeling defects of the hands and feet, or flame-shaped lucencies of the hands or feet

5) Ovarian fibroma

6) Medulloblastoma