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Genetic and Rare Diseases Information Center (GARD)

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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
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Symptoms

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What are the signs and symptoms of nevoid basal cell carcinoma syndrome?

Many different features have been described in people with nevoid basal cell carcinoma syndrome (NBCCS). These features are highly variable, even within affected members of the same family.[1]

Signs and symptoms in affected people may include:[1]
  • large head size (macrocephaly), large forehead (bossing of the forehead), coarse facial features, and/or facial milia (bumps on the skin that look like clogged pores or whiteheads)
  • skeletal abnormalities of the ribs and/or spine (bifid ribs, wedge-shaped vertebrae)
  • medulloblastoma (childhood brain tumor) in about 5% of affected children
  • multiple jaw keratocysts (usually in the second decade of life)
  • basal cell carcinoma
  • sebaceous and dermoid cysts
  • cardiac and ovarian fibromas
Last updated: 7/16/2014

The Human Phenotype Ontology provides the following list of signs and symptoms for Nevoid basal cell carcinoma syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Abnormality of dental enamel 90%
Abnormality of dental morphology 90%
Abnormality of the epiphyses 90%
Abnormality of the middle ear 90%
Abnormality of the nail 90%
Bone cyst 90%
Camptodactyly of finger 90%
Dermal atrophy 90%
Finger syndactyly 90%
Hand polydactyly 90%
Hearing abnormality 90%
Hypermelanotic macule 90%
Lower limb asymmetry 90%
Low-set, posteriorly rotated ears 90%
Melanocytic nevus 90%
Neoplasm of the skin 90%
Osteolysis 90%
Reduced number of teeth 90%
Rough bone trabeculation 90%
Sacrococcygeal pilonidal abnormality 90%
Skin ulcer 90%
Split foot 90%
Split hand 90%
Teleangiectasia of the skin 90%
Thin skin 90%
Toe syndactyly 90%
Verrucae 90%
Abnormal form of the vertebral bodies 50%
Abnormal localization of kidney 50%
Abnormality of pelvic girdle bone morphology 50%
Abnormality of the clavicles 50%
Abnormality of the neck 50%
Abnormality of the ribs 50%
Alopecia 50%
Aplasia/Hypoplasia of the iris 50%
Brachydactyly syndrome 50%
Choroideremia 50%
Cognitive impairment 50%
Dental malocclusion 50%
Ectopia lentis 50%
Facial asymmetry 50%
Frontal bossing 50%
Intestinal polyposis 50%
Iris coloboma 50%
Macrocephaly 50%
Multicystic kidney dysplasia 50%
Opacification of the corneal stroma 50%
Palmoplantar keratoderma 50%
Polycystic ovaries 50%
Scoliosis 50%
Spina bifida 50%
Spina bifida occulta 50%
Strabismus 50%
Wide nasal bridge 50%
Abdominal pain 7.5%
Abnormality of adipose tissue 7.5%
Abnormality of the carotid arteries 7.5%
Abnormality of the metacarpal bones 7.5%
Abnormality of the pleura 7.5%
Abnormality of the pulmonary vasculature 7.5%
Abnormality of the sense of smell 7.5%
Acute hepatic failure 7.5%
Aplasia/Hypoplasia affecting the eye 7.5%
Aplasia/Hypoplasia of the corpus callosum 7.5%
Aplasia/Hypoplasia of the lungs 7.5%
Arachnodactyly 7.5%
Bronchogenic cyst 7.5%
Carious teeth 7.5%
Cataract 7.5%
Chorea 7.5%
Conductive hearing impairment 7.5%
Congenital diaphragmatic hernia 7.5%
Cryptorchidism 7.5%
Duodenal stenosis 7.5%
Epicanthus 7.5%
Glaucoma 7.5%
Glioma 7.5%
Gynecomastia 7.5%
Hydrocephalus 7.5%
Hypertelorism 7.5%
Mandibular prognathia 7.5%
Mediastinal lymphadenopathy 7.5%
Medulloblastoma 7.5%
Meningioma 7.5%
Narrow nasal bridge 7.5%
Neoplasm of the heart 7.5%
Neoplasm of the skeletal system 7.5%
Nystagmus 7.5%
Omphalocele 7.5%
Optic nerve coloboma 7.5%
Oral cleft 7.5%
Ovarian neoplasm 7.5%
Patent ductus arteriosus 7.5%
Pointed chin 7.5%
Proptosis 7.5%
Renal cyst 7.5%
Renal hypoplasia/aplasia 7.5%
Sarcoma 7.5%
Seizures 7.5%
Tall stature 7.5%
Telecanthus 7.5%
Umbilical hernia 7.5%
Ventricular septal defect 7.5%
Vertebral segmentation defect 7.5%
Visual impairment 7.5%
Intellectual disability 5%
Abnormality of the sternum -
Autosomal dominant inheritance -
Basal cell carcinoma -
Bifid ribs -
Bridged sella turcica -
Calcification of falx cerebri -
Cardiac fibroma -
Cardiac rhabdomyoma -
Cataract -
Cleft palate -
Cleft upper lip -
Coarse facial features -
Down-sloping shoulders -
Glaucoma -
Hamartomatous stomach polyps -
Hemivertebrae -
Heterogeneous -
Hydrocephalus -
Hypertelorism -
Iris coloboma -
Irregular ossification of hand bones -
Keratocystic odontogenic tumor -
Kyphoscoliosis -
Macrocephaly -
Mandibular prognathia -
Medulloblastoma -
Microphthalmos -
Milia -
Motor delay -
Orbital cyst -
Ovarian fibroma -
Palmar pits -
Parietal bossing -
Plantar pits -
Polydactyly -
Scoliosis -
Short 4th metacarpal -
Short distal phalanx of the thumb -
Short ribs -
Skin tags -
Spina bifida -
Sprengel anomaly -
Strabismus -
Supernumerary ribs -
Variable expressivity -
Vertebral fusion -
Vertebral wedging -
Wide nasal bridge -

Last updated: 11/3/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. D Gareth Evans and Peter A Farndon. Nevoid Basal Cell Carcinoma Syndrome. GeneReviews. March 7, 2013; http://www.ncbi.nlm.nih.gov/books/NBK1151/. Accessed 7/16/2014.


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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.