Nevoid basal cell carcinoma syndrome
Other Names for this Disease
- Basal Cell Nevus Syndrome
- Fifth Phacomatosis
- Gorlin Syndrome
- Gorlin-Goltz Syndrome
- Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies
Your QuestionCan this syndrome be accompanied by other problems? Can a child's large body size and abnormal face shape have something to do with this? What are the effects in the long run?
We have identified the following information that we hope you find helpful. If you still have questions, please contact us.
Questions on this page
Signs and symptoms include:
Large head size (macrocephaly)
Large forehead (bossing of the forehead)
Coarse facial features
Facial milia (bumps on the skin with an appearance similar to clogged pores or whiteheads)
Shoulders that slope downward
Skeletal anomalies (often affecting the ribs and spine)
Hardening (calcification) of the falx (a fold that separates the right and left half of the brain)
Jaw cysts (keratocysts)
Basal cell carcinomas Less common features include: Heart fibroma (fibromas are noncancerous soft tissue tumors)
Cleft lip/palate (5%)
Extra digits (polydactyly)
Pigment changes in the retina (back of the eye)
Cyst in the eye orbit
Medulloblastoma or primitive neuroectodermal tumor (5%)
Children with basal cell carcinoma can develop facial cysts which might distort face shape. It is possible that large body size is also associated with this syndrome. The following articles describe cases of accelerated growth in children who developed basal cell carcinoma syndrome as a result of a small deletion involving the PTCH1 gene.
Shimojima K, Adachi M, Tanaka M, Tanaka Y, Kurosawa K, Yamamoto T. Clinical features of microdeletion 9q22.3 (pat). Clin Genet. 2009 Apr;75(4):384-93.
Chen CP, Lin SP, Wang TH, Chen YJ, Chen M, Wang W. Perinatal findings and molecular cytogenetic analyses of de novo interstitial deletion of 9q (9q22.3-->q31.3) associated with Gorlin syndrome. Prenat Diagn. 2006 Aug;26(8):725-9.
We strongly recommend that you discuss these questions with a genetics professional. Genetics professionals are a source of information for individuals and families regarding genetic diagnosis, natural history, treatment, mode of inheritance, and genetic risks to other family members. They can counsel you regarding your son's symptoms. To find a genetics clinic, we recommend that you contact your primary doctor for a referral. Click here to learn more about genetic consultations.
The following online resources can also help you find a genetics professional in your community:
* GeneTests - A searchable directory of US and international genetics and prenatal diagnosis clinics. Go to the following link and click on 'Clinic Directory' to find a genetic service close to you.
* ResourceLink - A database of genetics counseling services, searchable by location, name, institution, type of practice, or specialty. Hosted by the National Society of Genetic Counselors.
* Genetic Centers, Clinics, and Departments - A comprehensive resource list for genetic counseling, including links to genetic centers and clinics, associations, and university genetics departments. Hosted by the University of Kansas Medical Center.
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns Further resources on nevoid basal cell carcinoma syndrome is available on our Web site at the following link:
- Gorlin syndrome. Genetic Home Reference. 2008; http://ghr.nlm.nih.gov/condition/gorlin-syndrome. Accessed 6/23/2010.
- Sparks SE, Krasnewich DM. Nevoid Basal Cell Carcinoma. GeneReviews. 2002; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns. Accessed 7/23/2010.