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Gorlin syndrome(BCNS)

MedGen UID:
2554
Concept ID:
C0004779
Neoplastic Process
Synonyms: Basal cell nevus syndrome; BCNS; Fifth Phacomatosis; Gorlin-Goltz Syndrome; Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies; Nevoid Basal Cell Carcinoma Syndrome
SNOMED CT: Gorlin syndrome (69408002); Nevoid basal cell carcinoma syndrome (69408002); Basal cell carcinoma syndrome (69408002); Gorlin-Goltz syndrome (69408002); Basal cell nevus syndrome (69408002); NBCCS - Nevoid basal cell carcinoma syndrome (69408002); BCNS - Basal cell nevus syndrome (69408002); Gorlin's syndrome (69408002)
Modes of inheritance:
Heterogeneous
MedGen UID:
67020
Concept ID:
C0242960
Organism Attribute
Source: HPO
The presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992)
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Genes (locations): PTCH1 (9q22.32); PTCH2 (1p34.1); SUFU (10q24.32)
 
OMIM®: 109400
Orphanet: ORPHA377

Disease characteristics

Excerpted from the GeneReview: Nevoid Basal Cell Carcinoma Syndrome
Nevoid basal cell carcinoma syndrome (NBCCS) is characterized by the development of multiple jaw keratocysts, frequently beginning in the second decade of life, and/or basal cell carcinomas (BCCs) usually from the third decade onward. Approximately 60% of individuals have a recognizable appearance with macrocephaly, frontal bossing, coarse facial features, and facial milia. Most individuals have skeletal anomalies (e.g., bifid ribs, wedge-shaped vertebrae). Ectopic calcification, particularly in the falx, is present in more than 90% of affected individuals by age 20 years. Cardiac and ovarian fibromas occur in approximately 2% and 20% of individuals respectively. Approximately 5% of all children with NBCCS develop medulloblastoma (primitive neuroectodermal tumor), generally the desmoplastic subtype. The risk of developing medulloblastoma is substantially higher in individuals with an SUFU pathogenic variant (33%) than in those with a PTCH1 pathogenic variant (<2%). Peak incidence is at age one to two years. Life expectancy in NBCCS is not significantly different from average. [from GeneReviews]
Authors:
D Gareth Evans  |  Peter A Farndon   view full author information

Additional descriptions

From OMIM
The basal cell nevus syndrome (BCNS) is characterized by numerous basal cell cancers and epidermal cysts of the skin, calcified dural folds, keatocysts of the jaws, palmar and plantar pits, ovarian fibromas, medulloblastomas, lymphomesentreic cysts, fetal rhabdomyomas, and various stigmata of maldevelopment (e.g., rib and vertebral abnormalities, cleft lip or cleft palate, and cortical defects of bones) (summary by Koch et al., 2002).  http://www.omim.org/entry/109400
From MedlinePlus Genetics
9q22.3 microdeletion is a chromosomal change in which a small piece of chromosome 9 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome in a region designated q22.3. This chromosomal change is associated with delayed development, intellectual disability, certain physical abnormalities, and the characteristic features of a genetic condition called Gorlin syndrome.\n\nMany individuals with a 9q22.3 microdeletion have delayed development, particularly affecting the development of motor skills such as sitting, standing, and walking. In some people, the delays are temporary and improve in childhood. More severely affected individuals have permanent developmental disabilities along with intellectual impairment and learning problems. Rarely, seizures have been reported in people with a 9q22.3 microdeletion.\n\n9q22.3 microdeletions also cause the characteristic features of Gorlin syndrome (also known as nevoid basal cell carcinoma syndrome). This genetic condition affects many areas of the body and increases the risk of developing various cancerous and noncancerous tumors. In people with Gorlin syndrome, the type of cancer diagnosed most often is basal cell carcinoma, which is the most common form of skin cancer. Most people with this condition also develop noncancerous (benign) tumors of the jaw, called keratocystic odontogenic tumors, which can cause facial swelling and tooth displacement. Other types of tumors that occur in some people with Gorlin syndrome include a form of childhood brain cancer called a medulloblastoma and a type of benign tumor called a fibroma that occurs in the heart or in a woman's ovaries. Other features of Gorlin syndrome include small depressions (pits) in the skin of the palms of the hands and soles of the feet; an unusually large head size (macrocephaly) with a prominent forehead; and skeletal abnormalities involving the spine, ribs, or skull.\n\nAbout 20 percent of people with a 9q22.3 microdeletion experience overgrowth (macrosomia), which results in increased height and weight compared to unaffected peers. The macrosomia often begins before birth and continues into childhood. Other physical changes that are sometimes associated with a 9q22.3 microdeletion include the premature fusion of certain bones in the skull (metopic craniosynostosis) and a buildup of fluid in the brain (hydrocephalus). Affected individuals can also have distinctive facial features such as a prominent forehead with vertical skin creases, upward- or downward-slanting eyes, a short nose, and a long space between the nose and upper lip (philtrum).  https://medlineplus.gov/genetics/condition/9q223-microdeletion
From MedlinePlus Genetics
Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome, is a condition that affects many areas of the body and increases the risk of developing various cancerous and noncancerous tumors.\n\nIn people with Gorlin syndrome, the type of cancer diagnosed most often is basal cell carcinoma, which is the most common form of skin cancer. Individuals with Gorlin syndrome typically begin to develop basal cell carcinomas during adolescence or early adulthood. These cancers occur most often on the face, chest, and back. The number of basal cell carcinomas that develop during a person's lifetime varies among affected individuals. Some people with Gorlin syndrome never develop any basal cell carcinomas, while others may develop thousands of these cancers. Individuals with lighter skin are more likely to develop basal cell carcinomas than are people with darker skin. The number of carcinomas may be reduced with ongoing treatment.\n\nMost people with Gorlin syndrome also develop noncancerous (benign) tumors of the jaw, called keratocystic odontogenic tumors. These tumors usually first appear during adolescence, and new tumors form until about age 30. Keratocystic odontogenic tumors rarely develop later in adulthood. If untreated, these tumors may cause painful facial swelling and tooth displacement.\n\nIndividuals with Gorlin syndrome have a higher risk than the general population of developing other tumors. A small proportion of affected individuals develop a brain tumor called medulloblastoma during childhood. A type of benign tumor called a fibroma can occur in the heart or in a woman's ovaries. Heart (cardiac) fibromas often do not cause any symptoms, but they may obstruct blood flow or cause irregular heartbeats (arrhythmia). Ovarian fibromas are not thought to affect a woman's ability to have children (fertility).\n\nOther features of Gorlin syndrome include small depressions (pits) in the skin of the palms of the hands and soles of the feet; an unusually large head size (macrocephaly) with a prominent forehead; and skeletal abnormalities involving the spine, ribs, or skull. These signs and symptoms are typically apparent from birth or become evident in early childhood.  https://medlineplus.gov/genetics/condition/gorlin-syndrome

Clinical features

From HPO
Medulloblastoma
MedGen UID:
7517
Concept ID:
C0025149
Neoplastic Process
Medulloblastoma is the most common brain tumor in children. It accounts for 16% of all pediatric brain tumors, and 40% of all cerebellar tumors in childhood are medulloblastoma. Medulloblastoma occurs bimodally, with peak incidences between 3 and 4 years and 8 and 9 years of age. Approximately 10 to 15% of medulloblastomas are diagnosed in infancy. Medulloblastoma accounts for less than 1% of central nervous system (CNS) tumors in adults, with highest incidence in adults 20 to 34 years of age. In 1 to 2% of patients, medulloblastoma is associated with Gorlin syndrome (109400), a nevoid basal carcinoma syndrome. Medulloblastoma also occurs in up to 40% of patients with Turcot syndrome (see 276300). Medulloblastoma is thought to arise from neural stem cell precursors in the granular cell layer of the cerebellum. Standard treatment includes surgery, chemotherapy, and, depending on the age of the patient, radiation therapy (Crawford et al., 2007). Millard and De Braganca (2016) reviewed the histopathologic variants and molecular subgroups of medulloblastoma. Pretreatment prognosis of medulloblastoma has been refined by histopathologic subclassification into the following variants: large-cell medulloblastoma, anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma with extensive nodularity (MBEN). The latter 2 groups have been shown to have a significantly superior prognosis as compared to the large cell and anaplastic groups in young children. At the molecular level, medulloblastomas have been categorized into the following subgroups: wingless (WNT), sonic hedgehog (SHH), group 3, and group 4. Each subgroup is characterized by a unique set of genetics and gene expression as well as demographic and clinical features.
Rhabdomyoma
MedGen UID:
48445
Concept ID:
C0035411
Neoplastic Process
A benign tumor of striated muscle.
Fibroma of ovary
MedGen UID:
57706
Concept ID:
C0149951
Neoplastic Process
A rare benign ovarian tumor of sex cord / stromal origin characterized by an abdominal mass which may present with abdominal pain, distension, or menorrhagia, among others, or may also be asymptomatic. Association with ascites and hydrothorax is known as Meigs syndrome. The tumor can be solid and/or cystic in nature. Histologically it features bundles of spindle cells forming variable amounts of collagen, without cellular atypia or atypical mitoses.
Cardiac fibroma
MedGen UID:
203335
Concept ID:
C1096654
Neoplastic Process
A fibroma of the heart.
Cardiac rhabdomyoma
MedGen UID:
232027
Concept ID:
C1332852
Neoplastic Process
A benign tumor of cardiac striated muscle.
Odontogenic keratocysts of the jaw
MedGen UID:
313330
Concept ID:
C1708604
Neoplastic Process
A benign uni- or multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behaviour.
Hamartomatous stomach polyps
MedGen UID:
400021
Concept ID:
C1862304
Disease or Syndrome
Ovarian carcinoma
MedGen UID:
1648335
Concept ID:
C4721610
Neoplastic Process
A malignant neoplasm originating from the surface ovarian epithelium.
Basal cell carcinoma
MedGen UID:
1648304
Concept ID:
C4721806
Neoplastic Process
The most frequently seen skin cancer. It arises from basal cells of the epidermis and pilosebaceous units. Clinically it is divided into the following types: nodular, ulcerative, superficial, multicentric, erythematous, and sclerosing or morphea-like. More than 95% of these carcinomas occur in patients over 40. They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck and the remaining 15% on the trunk and extremities. Basal cell carcinoma usually grows in a slow and indolent fashion. However, if untreated, the tumor may invade the subcutaneous fat, skeletal muscle and bone. Distant metastases are rare. Excision, curettage and irradiation cure most basal cell carcinomas.
Fibroma of ovary
MedGen UID:
57706
Concept ID:
C0149951
Neoplastic Process
A rare benign ovarian tumor of sex cord / stromal origin characterized by an abdominal mass which may present with abdominal pain, distension, or menorrhagia, among others, or may also be asymptomatic. Association with ascites and hydrothorax is known as Meigs syndrome. The tumor can be solid and/or cystic in nature. Histologically it features bundles of spindle cells forming variable amounts of collagen, without cellular atypia or atypical mitoses.
Ovarian carcinoma
MedGen UID:
1648335
Concept ID:
C4721610
Neoplastic Process
A malignant neoplasm originating from the surface ovarian epithelium.
Polydactyly
MedGen UID:
57774
Concept ID:
C0152427
Congenital Abnormality
A congenital anomaly characterized by the presence of supernumerary fingers or toes.
Brachydactyly
MedGen UID:
67454
Concept ID:
C0221357
Congenital Abnormality
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.
Palmar pits
MedGen UID:
96101
Concept ID:
C0423776
Finding
Short 4th metacarpal
MedGen UID:
327074
Concept ID:
C1840309
Finding
Short fourth metacarpal bone.
Plantar pits
MedGen UID:
338902
Concept ID:
C1852301
Finding
The presence of multiple pits (small, pinpoint-large indentations on the surface of the skin) located on the skin of sole of foot.
Short distal phalanx of the thumb
MedGen UID:
400023
Concept ID:
C1862313
Finding
Hypoplastic (short) distal phalanx of the thumb.
Irregular ossification of hand bones
MedGen UID:
870912
Concept ID:
C4025374
Finding
Cardiac fibroma
MedGen UID:
203335
Concept ID:
C1096654
Neoplastic Process
A fibroma of the heart.
Cardiac rhabdomyoma
MedGen UID:
232027
Concept ID:
C1332852
Neoplastic Process
A benign tumor of cardiac striated muscle.
Hamartomatous stomach polyps
MedGen UID:
400021
Concept ID:
C1862304
Disease or Syndrome
Hydrocephalus
MedGen UID:
9335
Concept ID:
C0020255
Disease or Syndrome
Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.
Medulloblastoma
MedGen UID:
7517
Concept ID:
C0025149
Neoplastic Process
Medulloblastoma is the most common brain tumor in children. It accounts for 16% of all pediatric brain tumors, and 40% of all cerebellar tumors in childhood are medulloblastoma. Medulloblastoma occurs bimodally, with peak incidences between 3 and 4 years and 8 and 9 years of age. Approximately 10 to 15% of medulloblastomas are diagnosed in infancy. Medulloblastoma accounts for less than 1% of central nervous system (CNS) tumors in adults, with highest incidence in adults 20 to 34 years of age. In 1 to 2% of patients, medulloblastoma is associated with Gorlin syndrome (109400), a nevoid basal carcinoma syndrome. Medulloblastoma also occurs in up to 40% of patients with Turcot syndrome (see 276300). Medulloblastoma is thought to arise from neural stem cell precursors in the granular cell layer of the cerebellum. Standard treatment includes surgery, chemotherapy, and, depending on the age of the patient, radiation therapy (Crawford et al., 2007). Millard and De Braganca (2016) reviewed the histopathologic variants and molecular subgroups of medulloblastoma. Pretreatment prognosis of medulloblastoma has been refined by histopathologic subclassification into the following variants: large-cell medulloblastoma, anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma with extensive nodularity (MBEN). The latter 2 groups have been shown to have a significantly superior prognosis as compared to the large cell and anaplastic groups in young children. At the molecular level, medulloblastomas have been categorized into the following subgroups: wingless (WNT), sonic hedgehog (SHH), group 3, and group 4. Each subgroup is characterized by a unique set of genetics and gene expression as well as demographic and clinical features.
Isolated spina bifida
MedGen UID:
38283
Concept ID:
C0080178
Congenital Abnormality
A group of rare neural tube defect disorders characterized by improper closure of the spinal column during embryonal development, not associated with other major congenital malformations nor ventriculomegaly. The extent of the closure defect may vary, ranging from spina bifida occulta, in which the site of the lesion is not exposed (e.g. an isolated posterior vertebral arch defect), to spina bifida aperta, in which the lesion may be conformed of proturding spinal cord and meninges (myelomeningocele) or meninges exposure only (meningocele), with or without a proturding sac at the site of the lesion, to the most severe defect which includes total exposure of the spinal cord along its full length (rachischisis). Depending on the type, size and site of the defect, severe morbidity, typically inlcuding motor, sensory and sphincter dysfunction, and mortality may be associated. Spina bifida occulta may be asymptomatic.
Calcification of falx cerebri
MedGen UID:
237237
Concept ID:
C1397139
Disease or Syndrome
The presence of calcium deposition in the falx cerebri.
Motor delay
MedGen UID:
381392
Concept ID:
C1854301
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
A broad category of disorders characterized by an impairment to the intelligence an individual possesses. These impairments can result from trauma, birth, or disease and are not restricted to any particular age group.
Rhabdomyoma
MedGen UID:
48445
Concept ID:
C0035411
Neoplastic Process
A benign tumor of striated muscle.
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Polydactyly
MedGen UID:
57774
Concept ID:
C0152427
Congenital Abnormality
A congenital anomaly characterized by the presence of supernumerary fingers or toes.
Congenital elevation of scapula
MedGen UID:
56291
Concept ID:
C0152438
Congenital Abnormality
A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other).
Frontal bossing
MedGen UID:
67453
Concept ID:
C0221354
Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Brachydactyly
MedGen UID:
67454
Concept ID:
C0221357
Congenital Abnormality
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.
Vertebral wedging
MedGen UID:
120495
Concept ID:
C0264112
Anatomical Abnormality
An abnormal shape of the vertebral bodies whereby the vertebral bodies are thick on one side and taper to a thin edge at the other.
Hemivertebrae
MedGen UID:
82720
Concept ID:
C0265677
Congenital Abnormality
A congenital abnormality characterized by incomplete development of one side of the vertebrae (arch and hemicentrum), resulting in spinal malformation.
Supernumerary ribs
MedGen UID:
83380
Concept ID:
C0345397
Congenital Abnormality
The presence of more than 12 rib pairs.
Mandibular prognathia
MedGen UID:
98316
Concept ID:
C0399526
Finding
Abnormal prominence of the chin related to increased length of the mandible.
Short ribs
MedGen UID:
98094
Concept ID:
C0426817
Finding
Reduced rib length.
Kyphoscoliosis
MedGen UID:
154361
Concept ID:
C0575158
Anatomical Abnormality
An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.
Cardiac rhabdomyoma
MedGen UID:
232027
Concept ID:
C1332852
Neoplastic Process
A benign tumor of cardiac striated muscle.
Calcification of falx cerebri
MedGen UID:
237237
Concept ID:
C1397139
Disease or Syndrome
The presence of calcium deposition in the falx cerebri.
Short 4th metacarpal
MedGen UID:
327074
Concept ID:
C1840309
Finding
Short fourth metacarpal bone.
Down-sloping shoulders
MedGen UID:
346461
Concept ID:
C1856872
Finding
Low set, steeply sloping shoulders.
Parietal bossing
MedGen UID:
347377
Concept ID:
C1857126
Finding
Parietal bossing is a marked prominence in the parietal region.
Abnormality of the sternum
MedGen UID:
349830
Concept ID:
C1860493
Anatomical Abnormality
An anomaly of the sternum, also known as the breastbone.
Short distal phalanx of the thumb
MedGen UID:
400023
Concept ID:
C1862313
Finding
Hypoplastic (short) distal phalanx of the thumb.
Sella turcica, bridged
MedGen UID:
356654
Concept ID:
C1866959
Anatomical Abnormality
Macrocephalus
MedGen UID:
745757
Concept ID:
C2243051
Finding
Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
Vertebral fusion
MedGen UID:
480139
Concept ID:
C3278509
Anatomical Abnormality
A developmental defect leading to the union of two adjacent vertebrae.
Irregular ossification of hand bones
MedGen UID:
870912
Concept ID:
C4025374
Finding
Bifid ribs
MedGen UID:
1648338
Concept ID:
C4721788
Anatomical Abnormality
A bifid rib refers to cleavage of the sternal end of a rib, usually unilateral. Bifid ribs are usually asymptomatic, and are often discovered incidentally by chest x-ray.
Cleft upper lip
MedGen UID:
40327
Concept ID:
C0008924
Congenital Abnormality
A gap in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.
Orbital cyst
MedGen UID:
56359
Concept ID:
C0155285
Finding
Presence of a cyst in the region of the periorbital tissues. Orbital cysts can be derived from epithelial or glandular tissue within or surrounding the orbit (lacrimal glands, salivary glands, conjunctival, oral, nasal, or sinus epithelium).
Frontal bossing
MedGen UID:
67453
Concept ID:
C0221354
Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Mandibular prognathia
MedGen UID:
98316
Concept ID:
C0399526
Finding
Abnormal prominence of the chin related to increased length of the mandible.
Odontogenic keratocysts of the jaw
MedGen UID:
313330
Concept ID:
C1708604
Neoplastic Process
A benign uni- or multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behaviour.
Coarse facial features
MedGen UID:
335284
Concept ID:
C1845847
Finding
Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.
Wide nasal bridge
MedGen UID:
341441
Concept ID:
C1849367
Finding
Parietal bossing
MedGen UID:
347377
Concept ID:
C1857126
Finding
Parietal bossing is a marked prominence in the parietal region.
Broad face
MedGen UID:
349223
Concept ID:
C1859680
Finding
Bizygomatic (upper face) and bigonial (lower face) width greater than 2 standard deviations above the mean (objective); or an apparent increase in the width of the face (subjective).
Sella turcica, bridged
MedGen UID:
356654
Concept ID:
C1866959
Anatomical Abnormality
Macrocephalus
MedGen UID:
745757
Concept ID:
C2243051
Finding
Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
Cleft palate
MedGen UID:
756015
Concept ID:
C2981150
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Skin tags
MedGen UID:
11452
Concept ID:
C0037293
Neoplastic Process
A small, benign growth that arises from the skin. It is characterized by the presence of fibrovascular tissue lined by epidermis. It may be sessile or pendulous and usually occurs in sites where there is friction.
Milia
MedGen UID:
87528
Concept ID:
C0345996
Anatomical Abnormality
Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin.
Palmar pits
MedGen UID:
96101
Concept ID:
C0423776
Finding
Plantar pits
MedGen UID:
338902
Concept ID:
C1852301
Finding
The presence of multiple pits (small, pinpoint-large indentations on the surface of the skin) located on the skin of sole of foot.
Basal cell carcinoma
MedGen UID:
1648304
Concept ID:
C4721806
Neoplastic Process
The most frequently seen skin cancer. It arises from basal cells of the epidermis and pilosebaceous units. Clinically it is divided into the following types: nodular, ulcerative, superficial, multicentric, erythematous, and sclerosing or morphea-like. More than 95% of these carcinomas occur in patients over 40. They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck and the remaining 15% on the trunk and extremities. Basal cell carcinoma usually grows in a slow and indolent fashion. However, if untreated, the tumor may invade the subcutaneous fat, skeletal muscle and bone. Distant metastases are rare. Excision, curettage and irradiation cure most basal cell carcinomas.
Glaucoma
MedGen UID:
42224
Concept ID:
C0017601
Disease or Syndrome
Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (145410), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
Microphthalmia
MedGen UID:
10033
Concept ID:
C0026010
Congenital Abnormality
Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.\n\nPeople with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or in the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision.\n\nPeople with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved.\n\nBetween one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
Cataract
MedGen UID:
39462
Concept ID:
C0086543
Acquired Abnormality
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
Iris coloboma
MedGen UID:
116097
Concept ID:
C0240063
Anatomical Abnormality
A rare, genetic, developmental defect of the eye characterized by a uni- or bilateral notch, gap, hole or fissure, typically located in the inferonasal quadrant of the eye, involving only the pigment epithelium or the iris stroma (incomplete) or involving both (complete), manifesting with iris shape anomalies (e.g. 'keyhole' or oval pupil) and/or photophobia. Association with colobomata in other parts of the eye (incl. ciliary body, zonule, choroid, retina, optic nerve) and complex malformation syndromes (such as CHARGE syndrome) may be observed.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGorlin syndrome
Follow this link to review classifications for Gorlin syndrome in Orphanet.

Professional guidelines

PubMed

Hampel H, Bennett RL, Buchanan A, Pearlman R, Wiesner GL; Guideline Development Group, American College of Medical Genetics and Genomics Professional Practice and Guidelines Committee and National Society of Genetic Counselors Practice Guidelines Committee.
Genet Med 2015 Jan;17(1):70-87. Epub 2014 Nov 13 doi: 10.1038/gim.2014.147. PMID: 25394175
Lo Muzio L, Pastorino L, Levanat S, Musani V, Situm M, Scarra GB
Eur J Hum Genet 2011 Aug;19(8) Epub 2011 Feb 9 doi: 10.1038/ejhg.2011.9. PMID: 21304560Free PMC Article
Trepanier A, Ahrens M, McKinnon W, Peters J, Stopfer J, Grumet SC, Manley S, Culver JO, Acton R, Larsen-Haidle J, Correia LA, Bennett R, Pettersen B, Ferlita TD, Costalas JW, Hunt K, Donlon S, Skrzynia C, Farrell C, Callif-Daley F, Vockley CW; National Society of Genetic Counselors.
J Genet Couns 2004 Apr;13(2):83-114. doi: 10.1023/B:JOGC.0000018821.48330.77. PMID: 15604628

Suggested Reading

Recent clinical studies

Etiology

Huq AJ, Bogwitz M, Gorelik A, Winship IM, White SM, Trainer AH
Intern Med J 2017 Jun;47(6):664-673. doi: 10.1111/imj.13429. PMID: 28328109
Jiang T, Wang J, Wang Y, Li C
World J Surg Oncol 2016 Aug 12;14(1):215. doi: 10.1186/s12957-016-0967-5. PMID: 27519263Free PMC Article
Hashmi AA, Edhi MM, Faridi N, Hosein M, Khan M
BMC Res Notes 2016 Jul 22;9:357. doi: 10.1186/s13104-016-2166-4. PMID: 27448602Free PMC Article
Yasar B, Byers HJ, Smith MJ, Lear J, Oudit D, Bholah Z, Roberts SA, Newman WG, Evans DG
Eur J Hum Genet 2015 May;23(5):708-10. Epub 2014 Aug 27 doi: 10.1038/ejhg.2014.167. PMID: 25159867Free PMC Article
Smith MJ, Beetz C, Williams SG, Bhaskar SS, O'Sullivan J, Anderson B, Daly SB, Urquhart JE, Bholah Z, Oudit D, Cheesman E, Kelsey A, McCabe MG, Newman WG, Evans DG
J Clin Oncol 2014 Dec 20;32(36):4155-61. Epub 2014 Nov 17 doi: 10.1200/JCO.2014.58.2569. PMID: 25403219

Diagnosis

Knapp KM, Murray J, Temple IK, Bicknell LS
Am J Med Genet A 2021 Mar;185(3):871-876. Epub 2020 Dec 18 doi: 10.1002/ajmg.a.62016. PMID: 33338304
Wolkow N, Jakobiec FA, Yoon MK
Surv Ophthalmol 2018 Sep - Oct;63(5):711-718. Epub 2017 Dec 27 doi: 10.1016/j.survophthal.2017.12.007. PMID: 29287708
Huq AJ, Bogwitz M, Gorelik A, Winship IM, White SM, Trainer AH
Intern Med J 2017 Jun;47(6):664-673. doi: 10.1111/imj.13429. PMID: 28328109
Jiang T, Wang J, Wang Y, Li C
World J Surg Oncol 2016 Aug 12;14(1):215. doi: 10.1186/s12957-016-0967-5. PMID: 27519263Free PMC Article
Hashmi AA, Edhi MM, Faridi N, Hosein M, Khan M
BMC Res Notes 2016 Jul 22;9:357. doi: 10.1186/s13104-016-2166-4. PMID: 27448602Free PMC Article

Therapy

Marous M, Mueller K, Tausk F
J Cosmet Laser Ther 2020 Nov 16;22(6-8):230-231. Epub 2021 Apr 14 doi: 10.1080/14764172.2021.1914852. PMID: 33849368
Mull JL, Madden LM, Bayliss SJ
Pediatr Dermatol 2016 Jul;33(4):e256-7. Epub 2016 May 31 doi: 10.1111/pde.12880. PMID: 27241746
Gururangan S, Robinson G, Ellison DW, Wu G, He X, Lu QR, McLendon R, Grant G, Driscoll T, Neuberg R
Pediatr Blood Cancer 2015 Oct;62(10):1855-8. Epub 2015 May 4 doi: 10.1002/pbc.25560. PMID: 25940061Free PMC Article
Zhu GA, Li AS, Chang AL
JAMA Dermatol 2014 Aug;150(8):877-9. doi: 10.1001/jamadermatol.2013.8744. PMID: 24898076
Basset-Seguin N, Bissonnette R, Girard C, Haedersdal M, Lear JT, Paul C, Piaserico S
J Eur Acad Dermatol Venereol 2014 May;28(5):626-32. Epub 2013 Apr 13 doi: 10.1111/jdv.12150. PMID: 23581795

Prognosis

Knapp KM, Fellows B, Aggarwal S, Dalal A, Bicknell LS
Eur J Med Genet 2021 Apr;64(4):104182. Epub 2021 Feb 25 doi: 10.1016/j.ejmg.2021.104182. PMID: 33639314
Rohdenburg C, Liersch J, Kutsche K, Schaller J
Am J Dermatopathol 2020 Sep;42(9):653-661. doi: 10.1097/DAD.0000000000001579. PMID: 31789838
Onodera S, Saito A, Hasegawa D, Morita N, Watanabe K, Nomura T, Shibahara T, Ohba S, Yamaguchi A, Azuma T
PLoS One 2017;12(9):e0184702. Epub 2017 Sep 15 doi: 10.1371/journal.pone.0184702. PMID: 28915250Free PMC Article
Jiang T, Wang J, Wang Y, Li C
World J Surg Oncol 2016 Aug 12;14(1):215. doi: 10.1186/s12957-016-0967-5. PMID: 27519263Free PMC Article
Mizuochi H, Fujii K, Shiohama T, Uchikawa H, Shimojo N
Biochem Biophys Res Commun 2015 Feb 13;457(3):318-23. Epub 2015 Jan 7 doi: 10.1016/j.bbrc.2014.12.108. PMID: 25576868

Clinical prediction guides

Knapp KM, Fellows B, Aggarwal S, Dalal A, Bicknell LS
Eur J Med Genet 2021 Apr;64(4):104182. Epub 2021 Feb 25 doi: 10.1016/j.ejmg.2021.104182. PMID: 33639314
Marous M, Mueller K, Tausk F
J Cosmet Laser Ther 2020 Nov 16;22(6-8):230-231. Epub 2021 Apr 14 doi: 10.1080/14764172.2021.1914852. PMID: 33849368
Onodera S, Saito A, Hasegawa D, Morita N, Watanabe K, Nomura T, Shibahara T, Ohba S, Yamaguchi A, Azuma T
PLoS One 2017;12(9):e0184702. Epub 2017 Sep 15 doi: 10.1371/journal.pone.0184702. PMID: 28915250Free PMC Article
Huq AJ, Bogwitz M, Gorelik A, Winship IM, White SM, Trainer AH
Intern Med J 2017 Jun;47(6):664-673. doi: 10.1111/imj.13429. PMID: 28328109
Mizuochi H, Fujii K, Shiohama T, Uchikawa H, Shimojo N
Biochem Biophys Res Commun 2015 Feb 13;457(3):318-23. Epub 2015 Jan 7 doi: 10.1016/j.bbrc.2014.12.108. PMID: 25576868

Recent systematic reviews

Rohdenburg C, Liersch J, Kutsche K, Schaller J
Am J Dermatopathol 2020 Sep;42(9):653-661. doi: 10.1097/DAD.0000000000001579. PMID: 31789838
Atarbashi-Moghadam S, Atarbashi-Moghadam F, Sijanivandi S, Mokhtari S
J Stomatol Oral Maxillofac Surg 2020 Apr;121(2):146-149. Epub 2019 Jul 20 doi: 10.1016/j.jormas.2019.07.010. PMID: 31336213
Sharif FN, Oliver R, Sweet C, Sharif MO
Cochrane Database Syst Rev 2015 Nov 5;(11):CD008464. doi: 10.1002/14651858.CD008464.pub3. PMID: 26545201Free PMC Article
Sharif FNj, Oliver R, Sweet C, Sharif MO
Cochrane Database Syst Rev 2010 Sep 8;(9):CD008464. doi: 10.1002/14651858.CD008464.pub2. PMID: 20824879

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