Topic: Nevoid basal cell carcinoma syndrome
Question: What are the symptoms of Nevoid basal cell carcinoma syndrome ?
Answer: 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. Signs and symptoms in affected people may include: 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 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) Bone cyst 90% Melanocytic nevus 90% Neoplasm of the skin 90% Osteolysis 90% Sacrococcygeal pilonidal abnormality 90% Skin ulcer 90% Abnormal form of the vertebral bodies 50% Abnormality of the neck 50% Brachydactyly syndrome 50% Frontal bossing 50% Intestinal polyposis 50% Macrocephaly 50% Palmoplantar keratoderma 50% Polycystic ovaries 50% Scoliosis 50% Spina bifida occulta 50% Wide nasal bridge 50% Abnormality of dental enamel 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 ribs 7.5% Abnormality of the sense of smell 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Arachnodactyly 7.5% Bronchogenic cyst 7.5% Carious teeth 7.5% Cataract 7.5% Chorea 7.5% Cognitive impairment 7.5% Conductive hearing impairment 7.5% Cryptorchidism 7.5% Epicanthus 7.5% Finger syndactyly 7.5% Glaucoma 7.5% Glioma 7.5% Gynecomastia 7.5% Hand polydactyly 7.5% Hydrocephalus 7.5% Hypertelorism 7.5% Iris coloboma 7.5% Mandibular prognathia 7.5% Medulloblastoma 7.5% Meningioma 7.5% Neoplasm of the heart 7.5% Nystagmus 7.5% Optic nerve coloboma 7.5% Oral cleft 7.5% Ovarian neoplasm 7.5% Proptosis 7.5% Renal cyst 7.5% Sarcoma 7.5% Seizures 7.5% Strabismus 7.5% Tall stature 7.5% Telecanthus 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 - Cleft palate - Cleft upper lip - Coarse facial features - Down-sloping shoulders - Hamartomatous stomach polyps - Hemivertebrae - Heterogeneous - Irregular ossification of hand bones - Kyphoscoliosis - Microphthalmia - Milia - Motor delay - Odontogenic keratocysts of the jaw - Orbital cyst - Ovarian fibroma - Palmar pits - Parietal bossing - Plantar pits - Polydactyly - Short 4th metacarpal - Short distal phalanx of the thumb - Short ribs - Skin tags - Spina bifida - Sprengel anomaly - Supernumerary ribs - Variable expressivity - Vertebral fusion - Vertebral wedging - 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.
(Source: GARD)