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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
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, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
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)
 
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 [PNET]), 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 description

From GHR
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.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. 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.Most 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.Individuals 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).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. These signs and symptoms are typically apparent from birth or become evident in early childhood.  https://ghr.nlm.nih.gov/condition/gorlin-syndrome

Clinical features

Glaucoma
MedGen UID:
42224
Concept ID:
C0017601
Disease or Syndrome
Glaucoma is a group of eye disorders in which the optic nerves connecting the eyes and the brain are progressively damaged. This damage can lead to reduction in side (peripheral) vision and eventual blindness. Other signs and symptoms may include bulging eyes, excessive tearing, and abnormal sensitivity to light (photophobia). The term "early-onset glaucoma" may be used when the disorder appears before the age of 40.In most people with glaucoma, the damage to the optic nerves is caused by increased pressure within the eyes (intraocular pressure). Intraocular pressure depends on a balance between fluid entering and leaving the eyes.Usually glaucoma develops in older adults, in whom the risk of developing the disorder may be affected by a variety of medical conditions including high blood pressure (hypertension) and diabetes mellitus, as well as family history. The risk of early-onset glaucoma depends mainly on heredity.Structural abnormalities that impede fluid drainage in the eye may be present at birth and usually become apparent during the first year of life. Such abnormalities may be part of a genetic disorder that affects many body systems, called a syndrome. If glaucoma appears before the age of 5 without other associated abnormalities, it is called primary congenital glaucoma.Other individuals experience early onset of primary open-angle glaucoma, the most common adult form of glaucoma. If primary open-angle glaucoma develops during childhood or early adulthood, it is called juvenile open-angle glaucoma.
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).
Microphthalmos
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.People 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.People 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.Between 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
Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other.
Cataract
MedGen UID:
39462
Concept ID:
C0086543
Acquired Abnormality
A cataract is a clouding of the lens in your eye. It affects your vision. Cataracts are very common in older people. By age 80, more than half of all Americans either have a cataract or have had cataract surgery. A cataract can occur in either or both eyes. It cannot spread from one eye to the other. Common symptoms are. -Blurry vision. -Colors that seem faded. -Glare - headlights, lamps or sunlight may seem too bright. You may also see a halo around lights. -Not being able to see well at night. -Double vision . -Frequent prescription changes in your eye wear . Cataracts usually develop slowly. New glasses, brighter lighting, anti-glare sunglasses or magnifying lenses can help at first. Surgery is also an option. It involves removing the cloudy lens and replacing it with an artificial lens. Wearing sunglasses and a hat with a brim to block ultraviolet sunlight may help to delay cataracts. NIH: National Eye Institute.
Iris coloboma
MedGen UID:
116097
Concept ID:
C0240063
Anatomical Abnormality
A coloboma of the iris.
Carcinoma, Basal Cell
MedGen UID:
2870
Concept ID:
C0007117
Neoplastic Process
A malignant skin neoplasm that seldom metastasizes but has potentialities for local invasion and destruction. Clinically it is divided into types: nodular, cicatricial, morphaic, and erythematoid (pagetoid). They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck area and the remaining 15% on the trunk and limbs. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1471)
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 (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).
Fibroma of ovary
MedGen UID:
57706
Concept ID:
C0149951
Neoplastic Process
The presence of a fibroma of the ovary.
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
Finding
Polyp-like protrusions which are histologically hamartomas located in the stomach.
Fibroma of ovary
MedGen UID:
57706
Concept ID:
C0149951
Neoplastic Process
The presence of a fibroma of the ovary.
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 to describe a series of Mendelian diseases characterized by distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here, however, it is preferable to described the observed phenotypic abnormalities precisely.
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
Finding
Polyp-like protrusions which are histologically hamartomas located in the stomach.
Hydrocephalus
MedGen UID:
9335
Concept ID:
C0020255
Disease or Syndrome
Autosomal recessive nonsyndromic hydrocephalus is characterized by onset in utero of enlarged ventricles due to a disturbance of cerebrospinal fluid accumulation. Affected individuals may have neurologic impairment (summary by Drielsma et al., 2012). Hydrocephalus can also be caused by Arnold-Chiari malformation, atresia of foramen of Magendie, stenosis of aqueduct of Sylvius (307000), toxoplasmosis, hydranencephaly, etc. Furthermore, it develops in infancy or childhood in achondroplasia (100800) and in Hurler disease (607014). Genetic Heterogeneity of Congenital Hydrocephalus See also autosomal recessive HYC2 (615219), caused by mutation in the MPDZ gene (603785) on chromosome 9p. An X-linked form (307000) is caused by mutation in the L1CAM gene on (308840) on chromosome Xq28.
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 (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).
Spina bifida
MedGen UID:
38283
Concept ID:
C0080178
Congenital Abnormality
Spina bifida is a condition in which the neural tube, a layer of cells that ultimately develops into the brain and spinal cord, fails to close completely during the first few weeks of embryonic development. As a result, when the spine forms, the bones of the spinal column do not close completely around the developing nerves of the spinal cord. Part of the spinal cord may stick out through an opening in the spine, leading to permanent nerve damage. Because spina bifida is caused by abnormalities of the neural tube, it is classified as a neural tube defect.Children born with spina bifida often have a fluid-filled sac on their back that is covered by skin, called a meningocele. If the sac contains part of the spinal cord and its protective covering, it is known as a myelomeningocele. The signs and symptoms of these abnormalities range from mild to severe, depending on where the opening in the spinal column is located and how much of the spinal cord is affected. Related problems can include a loss of feeling below the level of the opening, weakness or paralysis of the feet or legs, and problems with bladder and bowel control. Some affected individuals have additional complications, including a buildup of excess fluid around the brain (hydrocephalus) and learning problems. With surgery and other forms of treatment, many people with spina bifida live into adulthood.In a milder form of the condition, called spina bifida occulta, the bones of the spinal column are abnormally formed, but the nerves of the spinal cord usually develop normally. Unlike in the more severe form of spina bifida, the nerves do not stick out through an opening in the spine. Spina bifida occulta most often causes no health problems, although rarely it can cause back pain or changes in bladder function.
Calcification of falx cerebri
MedGen UID:
237237
Concept ID:
C1397139
Disease or Syndrome
The presence of calcium deposition in the falx cerebri.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)
No development of motor milestones
MedGen UID:
892432
Concept ID:
C4020874
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Fibroma of ovary
MedGen UID:
57706
Concept ID:
C0149951
Neoplastic Process
The presence of a fibroma of the ovary.
Cardiac rhabdomyoma
MedGen UID:
232027
Concept ID:
C1332852
Neoplastic Process
A benign tumor of cardiac striated muscle.
Scoliosis
MedGen UID:
21278
Concept ID:
C0037932
Finding
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 to describe a series of Mendelian diseases characterized by distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here, however, it is preferable to described the observed phenotypic abnormalities precisely.
Hemivertebrae
MedGen UID:
82720
Concept ID:
C0265677
Congenital Abnormality
Absence of one half of the vertebral body.
Bifid ribs
MedGen UID:
78570
Concept ID:
C0265695
Congenital 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.
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.
Calcification of falx cerebri
MedGen UID:
237237
Concept ID:
C1397139
Disease or Syndrome
The presence of calcium deposition in the falx cerebri.
Vertebral wedging
MedGen UID:
308436
Concept ID:
C1695776
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.
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
Finding
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
Macrocephaly
MedGen UID:
745757
Concept ID:
C2243051
Finding
Macrocephaly refers to an abnormally enlarged head inclusive of the scalp, cranial bones, and intracranial contents. Macrocephaly may be due to megalencephaly (true enlargement of the brain parenchyma), and the 2 terms are often used interchangeably in the genetic literature (reviews by Olney, 2007 and Williams et al., 2008). Autosomal recessive macrocephaly/megalencephaly syndrome is characterized by an enlarged cranium apparent at birth or in early childhood. Affected individuals have intellectual disability and may have dysmorphic facial features resulting from the macrocephaly (summary by Alfaiz et al., 2014).
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
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).
Microphthalmos
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.People 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.People 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.Between 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.
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.
Iris coloboma
MedGen UID:
116097
Concept ID:
C0240063
Anatomical Abnormality
A coloboma of the iris.
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
Increased breadth of the nasal bridge (and with it, the nasal root).
Parietal bossing
MedGen UID:
347377
Concept ID:
C1857126
Finding
Parietal bossing is a marked prominence in the parietal region.
Sella turcica, bridged
MedGen UID:
356654
Concept ID:
C1866959
Anatomical Abnormality
Macrocephaly
MedGen UID:
745757
Concept ID:
C2243051
Finding
Macrocephaly refers to an abnormally enlarged head inclusive of the scalp, cranial bones, and intracranial contents. Macrocephaly may be due to megalencephaly (true enlargement of the brain parenchyma), and the 2 terms are often used interchangeably in the genetic literature (reviews by Olney, 2007 and Williams et al., 2008). Autosomal recessive macrocephaly/megalencephaly syndrome is characterized by an enlarged cranium apparent at birth or in early childhood. Affected individuals have intellectual disability and may have dysmorphic facial features resulting from the macrocephaly (summary by Alfaiz et al., 2014).
Cleft secondary 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).
Cleft upper lip
MedGen UID:
892653
Concept ID:
C4020893
A gap in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.
Carcinoma, Basal Cell
MedGen UID:
2870
Concept ID:
C0007117
Neoplastic Process
A malignant skin neoplasm that seldom metastasizes but has potentialities for local invasion and destruction. Clinically it is divided into types: nodular, cicatricial, morphaic, and erythematoid (pagetoid). They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck area and the remaining 15% on the trunk and limbs. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1471)
Skin tags
MedGen UID:
11452
Concept ID:
C0037293
Neoplastic Process
Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumours that may either form secondarily over time primarily in areas where the skin forms creases, such as the neck, armpit or groin or may also be present at birth, in which case they usually occur in the periauricular region.
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.

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

Recent clinical studies

Etiology

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
Zhu GA, Li AS, Chang AL
JAMA Dermatol 2014 Aug;150(8):877-9. doi: 10.1001/jamadermatol.2013.8744. PMID: 24898076

Diagnosis

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
Iwasaki K, Matsushita H, Murakami H, Watanabe K, Wakatsuki A
J Pediatr Adolesc Gynecol 2016 Oct;29(5):e75-7. Epub 2016 Apr 11 doi: 10.1016/j.jpag.2016.03.010. PMID: 27079916
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
Fujii K, Miyashita T
Pediatr Int 2014 Oct;56(5):667-74. doi: 10.1111/ped.12461. PMID: 25131638

Therapy

Stieger M, Hunger RE
Dermatology 2016;232 Suppl 1:29-31. Epub 2016 Aug 11 doi: 10.1159/000447394. PMID: 27513585
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

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
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
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
Bholah Z, Smith MJ, Byers HJ, Miles EK, Evans DG, Newman WG
Fam Cancer 2014 Sep;13(3):477-80. doi: 10.1007/s10689-014-9712-9. PMID: 24659465
Ball A, Wenning J, Van Eyk N
J Pediatr Adolesc Gynecol 2011 Feb;24(1):e5-7. doi: 10.1016/j.jpag.2010.07.005. PMID: 20817576

Clinical prediction guides

Mangum R, Varga E, Boué DR, Capper D, Benesch M, Leonard J, Osorio DS, Pierson CR, Zumberge N, Sahm F, Schrimpf D, Pfister SM, Finlay JL
Childs Nerv Syst 2016 Dec;32(12):2439-2446. Epub 2016 Jul 21 doi: 10.1007/s00381-016-3185-0. PMID: 27444290
Fenwick AL, Kliszczak M, Cooper F, Murray J, Sanchez-Pulido L, Twigg SR, Goriely A, McGowan SJ, Miller KA, Taylor IB, Logan C; WGS500 Consortium., Bozdogan S, Danda S, Dixon J, Elsayed SM, Elsobky E, Gardham A, Hoffer MJ, Koopmans M, McDonald-McGinn DM, Santen GW, Savarirayan R, de Silva D, Vanakker O, Wall SA, Wilson LC, Yuregir OO, Zackai EH, Ponting CP, Jackson AP, Wilkie AO, Niedzwiedz W, Bicknell LS
Am J Hum Genet 2016 Jul 7;99(1):125-38. Epub 2016 Jun 30 doi: 10.1016/j.ajhg.2016.05.019. PMID: 27374770Free 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
Zhu GA, Li AS, Chang AL
JAMA Dermatol 2014 Aug;150(8):877-9. doi: 10.1001/jamadermatol.2013.8744. PMID: 24898076
Bholah Z, Smith MJ, Byers HJ, Miles EK, Evans DG, Newman WG
Fam Cancer 2014 Sep;13(3):477-80. doi: 10.1007/s10689-014-9712-9. PMID: 24659465

Recent systematic reviews

Sharif FN, Oliver R, Sweet C, Sharif MO
Cochrane Database Syst Rev 2015 Nov 5;(11):CD008464. doi: 10.1002/14651858.CD008464.pub3. PMID: 26545201
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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