Disease Information for Basal cell nevus syndrome (Gorlin)

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Clinical Manifestations
Signs & Symptoms
Particular physiognomy/Odd looking kids
Broad flat nose/facies
Craniofacial Abnormalities/Congenital
Facies particular
Brown skin discoloration
Pigmentation Lesions on Healing
Pigmented patches/skin
Bossing forehead,infants
Macrocephaly/Large head
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Chromosomal abnormality (Lab)
DNATest specific/genetics laboratory/abnormality (Lab)
Diagnostic Test Results
X-RAY
Xray/Subcutaneous ossification centers/calcification
Xray/Muscle calcification
Xray/Soft tissue calcification/muscle/subcutaneous
Xray/Frontal bossing, infant/Skull
Xray/Parietal bossing/Skull
Associated Diseases & Rule outs
Rule Outs
Basal cell carcinoma
Associated Disease & Complications
Basal cell carcinoma
Brain tumor
Cataract
Hydrocephalus
Primary Brain Neoplasm
Rib anomalies/Hypoplastic/deformed
Disease Mechanism & Classification
Class
CLASS/Faces-cranio online database (ex)
CLASS/Dermatologic/Subcutaneous (category)
Pathophysiology
Pathophysiology/Gene locus 9q22.3
Pathophysiology/Gene locus 9q31
Pathophysiology/Gene locus Chromosome 10
Pathophysiology/Gene locus Chromosome 10q
Pathophysiology/Gene locus Chromosome 9
Pathophysiology/Gene locus Chromosome 9q
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Oncogene PRCA1/Locus 10q
Process
PROCESS/Autosomal dominant hereditary disease (ex).
PROCESS/Congenital/developmental (category)
PROCESS/Eponymic (category)
PROCESS/Hereditofamilial (category)
PROCESS/Neoplastic (category)
PROCESS/Pre-Malignant condition (ex)
PROCESS/Anomalies/Deformities/Malformations (EX)
PROCESS/Dystostosis/craniofacial (ex)
Synonyms
Synonym
Basal cell carcinoma syndrome, Basal cell naevus syndrome, Basal cell nevus syndrome, basal cell nevus syndrome (BCNS), BCNS, BCNS Basal cell naevus syndr, BCNS Basal cell naevus syndrome, BCNS Basal cell nevus syndr, BCNS Basal cell nevus syndrome, fifth phacomatosis, Gorlin Goltz syndrome, GORLIN SYNDROME, Gorlin syndrome (disorder), Gorlin syndrome 2, Gorlin's syndrome, hereditary cutaneomandibular polyoncosis, jaw cysts basal cell tumors skeletal anomalies syndrome, multiple basal cell carcinoma syndrome multiple basal cell nevus syndrome, multiple hereditary cutaneomandibular polyoncosis, multiple nevoid basal cell carcinoma syndrome, multiple nevoid basal cell carcinoma syndrome (MNBCCS), multiple nevoid basal cell epithelioma jaw cysts bifid rib syndrome, Naevoid basal cell carcinoma syndrome, Naevoid BCC syndrome, NBCCS, NBCCS Naevoid basal cell carcinoma syndrome, NBCCS Nevoid basal cell carcinoma syndrome, NBCCS Naev basal cell carc syn, nevoid basal cell carcinoma (NBCC) syndrome (NBCCS NBS), NEVOID BASAL CELL CARCINOMA SYNDROME, nevoid basal cell epithelioma jaw cysts bifid rib syndrome, Nevoid BCC syndrome, Nevus Syndrome Basal Cell, odontogenic keratocytosis skeletal anomalies syndrome, Syndrome Gorlin, Synonym/Fifth phakomatosis, Synonym/Hermans-Herzberg phakomatosis, Synonym/Nevoid basal cell carcinoma syndrome, Synonym/Nevus, epitheliomatosis mult/jaw cysts
Definition

Nevoid Basal Cell Carcinoma Syndrome; Basal Cell Nevus Syndrome; ; Gorlin Syndrome; Gorlin-Goltz Syndrome; Hermans-Herzberg Phakomatosis; NBCCS; Nevus, Epitheliomatosis Multiplex; Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin or Gorlin-Goltz syndrome, is an inherited disorder characterized by a tendency to develop multiple cancerous cysts, lesions (nevi) of the skin and lining of the mouth, and other developmental and systemic defects; Almost any of the body"s organ systems may be affected; The lesions (nevus, nevi) are usually found in the outer layer of the skin (epidermis) or in the mucous membranes of the mouth; The connective tissues

and the nervous and vascular (blood vessel) systems of the body may also be affected; The skin lesions are limited in size, but not in number, and are not usually due to any external causes--------[NORD]---------------------

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External Links Related to Basal cell nevus syndrome (Gorlin)
Google
Wikipedia
Merck
Images
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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