How is it Diagnosed?
A BCCNS diagnosis can often be made after exams of several parts of the body by doctors experienced with the manifestations of the disorder. The following lists the information that may be useful in diagnosing the condition:
- A detailed medical history with emphasis on birth history (macrocephaly, hydrocephalus, undescended testes, hernia), achievement of developmental milestones, school performance, height and weight as compared to siblings, Hx/treatment of brain tumor, hx/treatment of strabismus, oral cleft repair, dental extractions, surgical removal of skin lesions, cardiac problems, infertility, fractures, environmental exposure, including radiation therapy for brain tumor, psoriasis, thyroid, acne, etc., arsenicals (Fowler’s solution, well water, living on a working farm), UV exposure, etc.
- Family history, including information about any family member who may have the disorder.
- A complete physical examination.
- You should also have tests to identify BCCNS features that are not visible during the physical exam, including:
- A general examination with a medical or clinical geneticist with special emphasis on facial dysmorphology, including macrocephaly, biparietal/frontal bossing, broad nasal root, mandibular prognathism, facial asymmetry oral clefting, dental malocclusion, hypertelorism, synophrys, coloboma, and epicanthal folds. A skeletal exam should be performed to identify any pectus anomalies, Sprengel deformity, scoliosis or kyphoscoliosis.
- A radiologic exam including the PA and lateral skull for ectopic calcification, CXR for ribs, Panorex of jaw, Rib films, Scapula, Long bones for bone cysts, Lateral Spine, MRI or CT of brain, Hand films for bone age (in kids) and flame-shaped (Dunnick’s) and lucencies of phalanges.
- A dermatologic exam should be performed to identify any palmar/plantar pits, Basal Cell carcinomas, pigmented macules and papules,“milia-like” lesions, especially periorbital and perinasal and dermoid cysts. If there is a history of radiation therapy, special attention should be given to the skin in the radiation port
- A dental exam should be performed including panorex of jaw (and sinus films, if symptoms present) to identify any keratocystic odontogenic tumors.
- A cardiology exam should be performed including cardiac ultrasound to search for cardiac fibromas.
- A gynecologic exam including pelvic ultrasound should be performed to identify any ovarian fibromas.
- Genetic screening: In addition to diagnosing on the basis of clinical features, BCCNS can be diagnosed by genetic screening. (File about genetic test)
What to do if you think you might have BCCNS?
If you suspect that you or a family member may have the syndrome or a related disorder, we recommend that you:
- Find a doctor who is knowledgeable about genetic disorders
- Compile a health history
- Reach out for information and support