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Cowden syndrome(CD; CS)

MedGen UID:
5420
Concept ID:
C0018553
Neoplastic Process
Synonyms: CD; Cowden disease; Cowden syndrome 1; Cowden's disease; Cowden's syndrome; CS; Multiple hamartoma syndrome
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: HPO
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).
SNOMED CT: Cowden's syndrome (58037000); Cowden syndrome (58037000); Multiple hamartoma syndrome (58037000)
 
OMIM®: 158350
Orphanet: ORPHA201

Definition

Cowden syndrome and Bannayan-Ruvalcaba-Riley syndrome (BRRS; 153480) share clinical characteristics such as hamartomatous polyps of the gastrointestinal tract, mucocutaneous lesions, and increased risk of developing neoplasms. Furthermore, both conditions and several other distinctive phenotypes are caused by mutations in the PTEN gene. For this reason Marsh et al. (1999) suggested that the spectrum of disorders be referred to as PTEN hamartoma tumor syndrome (PHTS). Approximately 80% of CS patients have PTEN mutations (Blumenthal and Dennis, 2008). Blumenthal and Dennis (2008) provided a detailed review of PTEN hamartoma tumor syndromes. Genetic Heterogeneity of Cowden Syndrome Also see Cowden syndrome-2 (CWS2; 612359), caused by mutation in the SDHB gene (185470) on chromosome 1p36; CWS3 (615106), caused by mutation in the SDHD gene (602690) on chromosome 11q23; CWS4 (615107), caused by hypermethylation of the promoter of the KLLN gene (612105), which shares the same transcription site as the PTEN gene, on chromosome 10q23; CWS5 (615108), caused by mutation in the PIK3CA gene (171834) on chromosome 3q26; CWS6 (615109), caused by mutation in the AKT1 gene (164730) on chromosome 14q32; and CWS7 (616858), caused by mutation in the SEC23B gene (610512) on chromosome 20p11. [from OMIM]

Additional description

From GHR
Cowden syndrome is a disorder characterized by multiple noncancerous, tumor-like growths called hamartomas and an increased risk of developing certain cancers.Almost everyone with Cowden syndrome develops hamartomas. These growths are most commonly found on the skin and mucous membranes (such as the lining of the mouth and nose), but they can also occur in the intestine and other parts of the body. The growth of hamartomas on the skin and mucous membranes typically becomes apparent by a person's late twenties.Cowden syndrome is associated with an increased risk of developing several types of cancer, particularly cancers of the breast, a gland in the lower neck called the thyroid, and the lining of the uterus (the endometrium). Other cancers that have been identified in people with Cowden syndrome include colorectal cancer, kidney cancer, and a form of skin cancer called melanoma. Compared with the general population, people with Cowden syndrome develop these cancers at younger ages, often beginning in their thirties or forties. Other diseases of the breast, thyroid, and endometrium are also common in Cowden syndrome. Additional signs and symptoms can include an enlarged head (macrocephaly) and a rare, noncancerous brain tumor called Lhermitte-Duclos disease. A small percentage of affected individuals have delayed development or intellectual disability.The features of Cowden syndrome overlap with those of another disorder called Bannayan-Riley-Ruvalcaba syndrome. People with Bannayan-Riley-Ruvalcaba syndrome also develop hamartomas and other noncancerous tumors. Both conditions can be caused by mutations in the PTEN gene. Some people with Cowden syndrome have had relatives diagnosed with Bannayan-Riley-Ruvalcaba syndrome, and other individuals have had the characteristic features of both conditions. Based on these similarities, researchers have proposed that Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome represent a spectrum of overlapping features known as PTEN hamartoma tumor syndrome instead of two distinct conditions.Some people have some of the characteristic features of Cowden syndrome, particularly the cancers associated with this condition, but do not meet the strict criteria for a diagnosis of Cowden syndrome. These individuals are often described as having Cowden-like syndrome.  http://ghr.nlm.nih.gov/condition/cowden-syndrome

Clinical features

Meningioma
MedGen UID:
7532
Concept ID:
C0025286
Neoplastic Process
tumor of the membranes that cover and protect the brain and spinal cord
Neoplasm of the nervous system
MedGen UID:
45046
Concept ID:
C0027766
Neoplastic Process
A tumor (abnormal growth of tissue) of the nervous system.
Thyroid adenoma
MedGen UID:
56228
Concept ID:
C0151468
Neoplastic Process
A benign neoplasm arising from follicular cells of the thyroid gland.
Transitional cell carcinoma of the bladder
MedGen UID:
76013
Concept ID:
C0279680
Neoplastic Process
The presence of a carcinoma of the urinary bladder with origin in a transitional epithelial cell.
Hamartomatous polyposis
MedGen UID:
83109
Concept ID:
C0334092
Neoplastic Process
Polyp-like protrusions which are histologically hamartomas. These can occur throughout the gastrointestinal tract. Hamartomatous polyps are composed of the normal cellular elements of the gastrointestinal tract, but have a markedly distorted architecture.
Breast Carcinoma
MedGen UID:
146260
Concept ID:
C0678222
Neoplastic Process
The presence of a carcinoma of the breast.
Intestinal polyposis
MedGen UID:
152871
Concept ID:
C0744333
Finding
The presence of multiple polyps in the intestine.
Multiple lipomas
MedGen UID:
677074
Concept ID:
C0745730
Finding
The presence of multiple lipomas (a type of benign tissue made of fatty tissue).
Fibroadenoma of the breast
MedGen UID:
488966
Concept ID:
C1328386
Neoplastic Process
A benign biphasic tumor of the breast with epithelial and stromal components.
Subcutaneous lipoma
MedGen UID:
234674
Concept ID:
C1403035
Neoplastic Process
The presence of subcutaneous lipoma.
Exostoses
MedGen UID:
257035
Concept ID:
C1442903
Pathologic Function
An exostosis is a benign growth the projects outward from the bone surface. It is cappped by cartilage, and arises from a bone that develops from cartilage.
Arteriovenous malformation
MedGen UID:
2042
Concept ID:
C0003857
Congenital Abnormality
Arteriovenous malformations (AVMs) are defects in your vascular system. The vascular system includes arteries, veins, and capillaries. Arteries carry blood away from the heart to other organs; veins carry blood back to the heart. Capillaries connect the arteries and veins. An AVM is a snarled tangle of arteries and veins. They are connected to each other, with no capillaries. That interferes with the blood circulation in an organ. AVMs can happen anywhere, but they are more common in the brain or spinal cord. Most people with brain or spinal cord AVMs have few, if any, major symptoms. Sometimes they can cause seizures or headaches. AVMs are rare. The cause is not known, but they seem to develop during pregnancy or soon after birth. Doctors use imaging tests to detect them. Medicines can help with the symptoms from AVMs. The greatest danger is hemorrhage. Treatment for AVMs can include surgery or focused radiation therapy. Because surgery can be risky, you and your doctor need to make a decision carefully. NIH: National Institute of Neurological Disorders and Stroke.
Disorder of cardiovascular system
MedGen UID:
2848
Concept ID:
C0007222
Disease or Syndrome
Any abnormality of the cardiovascular system.
Venous insufficiency
MedGen UID:
21841
Concept ID:
C0042485
Disease or Syndrome
Impaired venous blood flow or venous return (venous stasis), usually caused by inadequate venous valves. Venous insufficiency often occurs in the legs, and is associated with EDEMA and sometimes with VENOUS STASIS ULCERS at the ankle.
Goiter
MedGen UID:
42270
Concept ID:
C0018021
Finding
An enlargement of the thyroid gland.
Hyperthyroidism
MedGen UID:
6972
Concept ID:
C0020550
Disease or Syndrome
Your thyroid is a butterfly-shaped gland in your neck, just above your collarbone. It is one of your endocrine glands, which make hormones. Thyroid hormones control the rate of many activities in your body. These include how fast you burn calories and how fast your heart beats. All of these activities are your body's metabolism. If your thyroid is too active, it makes more thyroid hormones than your body needs. This is called hyperthyroidism. Hyperthyroidism is more common in women, people with other thyroid problems, and those over 60 years old. Grave's disease, an autoimmune disorder, is the most common cause. Other causes include thyroid nodules, thyroiditis, consuming too much iodine, and taking too much synthetic thyroid hormone. The symptoms can vary from person to person. They may include. -Being nervous or irritable. -Mood swings. -Fatigue or muscle weakness. -Heat intolerance. -Trouble sleeping. -Hand tremors. -Rapid and irregular heartbeat. -Frequent bowel movements or diarrhea. -Weight loss. -Goiter, which is an enlarged thyroid that may cause the neck to look swollen. To diagnose hyperthyroidism, your doctor will look at your symptoms, blood tests, and sometimes a thyroid scan. Treatment is with medicines, radioiodine therapy, or thyroid surgery. No single treatment works for everyone. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Hypothyroidism
MedGen UID:
6991
Concept ID:
C0020676
Disease or Syndrome
Your thyroid is a butterfly-shaped gland in your neck, just above your collarbone. It is one of your endocrine glands, which make hormones. Thyroid hormones control the rate of many activities in your body. These include how fast you burn calories and how fast your heart beats. All of these activities are your body's metabolism. If your thyroid gland is not active enough, it does not make enough thyroid hormone to meet your body's needs. This condition is hypothyroidism. Hypothyroidism is more common in women, people with other thyroid problems, and those over 60 years old. Hashimoto's disease, an autoimmune disorder, is the most common cause. Other causes include thyroid nodules, thyroiditis, congenital hypothyroidism, surgical removal of part or all of the thyroid, radiation treatment of the thyroid, and some medicines. The symptoms can vary from person to person. They may include. -Fatigue. -Weight gain. -A puffy face. -Cold intolerance. -Joint and muscle pain. -Constipation. -Dry skin. -Dry, thinning hair. -Decreased sweating. -Heavy or irregular menstrual periods and fertility problems. -Depression. -Slowed heart rate. To diagnose hypothyroidism, your doctor will look at your symptoms and blood tests. Treatment is with synthetic thyroid hormone, taken every day. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Disorder of parathyroid gland
MedGen UID:
10583
Concept ID:
C0030517
Disease or Syndrome
Most people have four pea-sized glands, called parathyroid glands, on the thyroid gland in the neck. Though their names are similar, the thyroid and parathyroid glands are completely different. The parathyroid glands make parathyroid hormone (PTH), which helps your body keep the right balance of calcium and phosphorous. If your parathyroid glands make too much or too little hormone, it disrupts this balance. If they secrete extra PTH, you have hyperparathyroidism, and your blood calcium rises. In many cases, a benign tumor on a parathyroid gland makes it overactive. Or, the extra hormones can come from enlarged parathyroid glands. Very rarely, the cause is cancer. If you do not have enough PTH, you have hypoparathyroidism. Your blood will have too little calcium and too much phosphorous. Causes include injury to the glands, endocrine disorders, or genetic conditions. Treatment is aimed at restoring the balance of calcium and phosphorous. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Thymus hyperplasia
MedGen UID:
11809
Concept ID:
C0040115
Disease or Syndrome
Enlargement of the thymus.
Thyroiditis
MedGen UID:
21548
Concept ID:
C0040147
Disease or Syndrome
Inflammation of the thyroid gland.
Thyroid adenoma
MedGen UID:
56228
Concept ID:
C0151468
Neoplastic Process
A benign neoplasm arising from follicular cells of the thyroid gland.
Angioid streaks
MedGen UID:
1541
Concept ID:
C0002982
Disease or Syndrome
Small breaks in the elastin-filled tissue of the retina.
Myopia
MedGen UID:
44558
Concept ID:
C0027092
Disease or Syndrome
An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.
Retinal detachment
MedGen UID:
19759
Concept ID:
C0035305
Disease or Syndrome
Primary or spontaneous detachment of the retina occurs due to underlying ocular disease and often involves the vitreous as well as the retina. The precipitating event is formation of a retinal tear or hole, which permits fluid to accumulate under the sensory layers of the retina and creates an intraretinal cleavage that destroys the neurosensory process of visual reception. Vitreoretinal degeneration and tear formation are painless phenomena, and in most cases, significant vitreoretinal pathology is found only after detachment of the retina starts to cause loss of vision or visual field. Without surgical intervention, retinal detachment will almost inevitably lead to total blindness (McNiel and McPherson, 1971).
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.
Abnormality of the pupil
MedGen UID:
450993
Concept ID:
C0154936
Finding
An abnormality of the pupil.
Heterochromic iris
MedGen UID:
98395
Concept ID:
C0423318
Finding
Heterochromia iridis is a difference in the color of the iris in the two eyes.
Epibulbar dermoid
MedGen UID:
401267
Concept ID:
C1867616
Neoplastic Process
An epibulbar dermoid is a benign tumor typically found at the junction of the cornea and sclera (limbal epibullar dermoid).
Cyst of ovary
MedGen UID:
14540
Concept ID:
C0029927
Disease or Syndrome
A cyst is a fluid-filled sac. In most cases a cyst on the ovary does no harm and goes away by itself. Most women have them sometime during their lives. Cysts are rarely cancerous in women under 50. Cysts sometimes hurt - but not always. Often, a woman finds out about a cyst when she has a pelvic exam. . If you're in your childbearing years or past menopause, have no symptoms, and have a fluid-filled cyst, you may choose to monitor the cyst. You may need surgery if you have pain, are past menopause or if the cyst does not go away. Birth control pills can help prevent new cysts. A health problem that may involve ovarian cysts is polycystic ovary syndrome (PCOS). Women with PCOS can have high levels of male hormones, irregular or no periods and small ovarian cysts. Dept. of Health and Human Services Office on Women's Health.
Polycystic ovaries
MedGen UID:
10836
Concept ID:
C0032460
Disease or Syndrome
Polycystic ovary syndrome (PCOS) happens when a woman's ovaries or adrenal glands produce more male hormones than normal. One result is that cysts (fluid-filled sacs) develop on the ovaries. Women who are obese are more likely to have polycystic ovary syndrome. Symptoms of PCOS include: -Infertility. -Pelvic pain. -Excess hair growth on the face, chest, stomach, thumbs, or toes. -Baldness or thinning hair. -Acne, oily skin, or dandruff. -Patches of thickened dark brown or black skin. . Women with PCOS are at higher risk of diabetes, metabolic syndrome, heart disease, and high blood pressure. Medicines can help control the symptoms. Birth control pills help women have normal periods, reduce male hormone levels, and clear acne. Other medicines can reduce hair growth and control blood pressure and cholesterol. There is no cure. NIH: National Institute of Child Health and Human Development.
Varicocele
MedGen UID:
22619
Concept ID:
C0042341
Disease or Syndrome
A condition characterized by the dilated tortuous veins of the SPERMATIC CORD with a marked left-sided predominance. Adverse effect on male fertility occurs when varicocele leads to an increased scrotal (and testicular) temperature and reduced testicular volume.
Transitional cell carcinoma of the bladder
MedGen UID:
76013
Concept ID:
C0279680
Neoplastic Process
The presence of a carcinoma of the urinary bladder with origin in a transitional epithelial cell.
Vaginal hydrocele
MedGen UID:
318568
Concept ID:
C1720771
Disease or Syndrome
Accumulation of serous fluid between the layers of membrane (tunica vaginalis) covering the TESTIS in the SCROTUM.
Hereditary palmoplantar keratoderma
MedGen UID:
44017
Concept ID:
C0022596
Disease or Syndrome
Hyperkeratosis affecting the palm of the hand and the sole of the foot.
Lower limb asymmetry
MedGen UID:
44089
Concept ID:
C0023221
Finding
A difference in length or diameter between the left and right leg.
Polydactyly of toes
MedGen UID:
510637
Concept ID:
C0158734
Congenital Abnormality
A kind of polydactyly characterized by the presence of a supernumerary toe or toes.
Genu recurvatum
MedGen UID:
107486
Concept ID:
C0546964
Anatomical Abnormality
An abnormal alignment of the knee backwards that is due to a deformity in the knee joint.
Lower limb asymmetry
MedGen UID:
44089
Concept ID:
C0023221
Finding
A difference in length or diameter between the left and right leg.
Tall stature
MedGen UID:
69137
Concept ID:
C0241240
Finding
Height greater than two standard deviations above the mean of the appropriate reference population for the age and sex of the individual.
Deafness
MedGen UID:
4155
Concept ID:
C0011053
Finding
A decreased magnitude of the sensory perception of sound.
Communicating hydrocephalus
MedGen UID:
1058
Concept ID:
C0009451
Disease or Syndrome
A form of hydrocephalus in which there is no visible obstruction to the flow of the cerebrospinal fluid between the ventricles and subarachnoid space.
Seizure Disorders
MedGen UID:
4506
Concept ID:
C0014544
Disease or Syndrome
Epilepsy is a brain disorder that causes people to have recurring seizures. The seizures happen when clusters of nerve cells, or neurons, in the brain send out the wrong signals. People may have strange sensations and emotions or behave strangely. They may have violent muscle spasms or lose consciousness. Epilepsy has many possible causes, including illness, brain injury, and abnormal brain development. In many cases, the cause is unknown. Doctors use brain scans and other tests to diagnose epilepsy. It is important to start treatment right away. There is no cure for epilepsy, but medicines can control seizures for most people. When medicines are not working well, surgery or implanted devices such as vagus nerve stimulators may help. Special diets can help some children with epilepsy. NIH: National Institute of Neurological Disorders and Stroke.
Meningioma
MedGen UID:
7532
Concept ID:
C0025286
Neoplastic Process
tumor of the membranes that cover and protect the brain and spinal cord
Intellectual functioning disability
MedGen UID:
7544
Concept ID:
C0025362
Mental or Behavioral Dysfunction
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
Mild mental retardation (I.Q. 50-70)
MedGen UID:
10044
Concept ID:
C0026106
Mental or Behavioral Dysfunction
Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.
Neoplasm of the nervous system
MedGen UID:
45046
Concept ID:
C0027766
Neoplastic Process
A tumor (abnormal growth of tissue) of the nervous system.
Migraine
MedGen UID:
57451
Concept ID:
C0149931
Disease or Syndrome
Migraine is the most common type of chronic, episodic headache, as summarized by Featherstone (1985). One locus for migraine with or without aura (MGR1) has been identified on chromosome 4q24. Other loci for migraine have been identified on 6p21.1-p12.2 (MGR3; 607498), 14q21.2-q22.3 (MGR4; 607501), 19p13 (MGR5; 607508), 1q31 (MGR6; 607516), 15q11-q13 (MGR7; 609179), 5q21 (with or without aura, MGR8, 609570; with aura, MGR9, 609670), 17p13 (MGR10; 610208), 18q12 (MGR11; 610209), 10q22-q23 (MGR12; 611706), and the X chromosome (MGR2; 300125). Mutation in the KCNK18 gene (613655) on chromosome 10q25 causes migraine with aura (MGR13; 613656). A subtype of autosomal dominant migraine with aura (MA), familial hemiplegic migraine (FHM; see 141500), is caused by mutation in the CACNA1A gene (601011) on chromosome 19p13 (FHM1; 141500), by mutation in the ATP1A2 gene (182340) on chromosome 1q21 (FHM2; 602481), or by mutation in the SCN1A gene (182389) on chromosome 2q24 (FHM3; 609634). Another locus for FHM has been mapped to chromosome 1q31 (FHM4; see 607516). There is evidence that a polymorphism in the estrogen receptor gene (ESR1; 133430.0005) and a polymorphism in the TNF gene (191160.0004) may confer susceptibility to migraine. A polymorphism in the endothelin receptor type A gene (EDNRA; 131243.0001) may confer resistance to migraine.
Raised intracranial pressure
MedGen UID:
56241
Concept ID:
C0151740
Disease or Syndrome
An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid.
Kinetic tremor
MedGen UID:
65875
Concept ID:
C0234376
Sign or Symptom
Tremor that occurs during any voluntary movement. It may include visually or non-visually guided movements. Tremor during target directed movement is called intention tremor.
Cognitive impairment
MedGen UID:
90932
Concept ID:
C0338656
Mental or Behavioral Dysfunction
a condition where a person has problems with the ability to think and learn
Abnormal coordination
MedGen UID:
141714
Concept ID:
C0520966
Sign or Symptom
Neuronal Migration Disorders
MedGen UID:
324748
Concept ID:
C1837249
Disease or Syndrome
Disorders resulting from defects in migration of neuronal cells during neurogenesis. Developing nerve cells either fail to migrate or they migrate to incorrect positions resulting in formation of heterotopias, lissencephaly, or other malformations and dysfunctions of the nervous system.
Cerebellar hypoplasia and atrophy
MedGen UID:
480852
Concept ID:
C3279222
Finding
Bronchogenic cyst
MedGen UID:
668
Concept ID:
C0006281
Congenital Abnormality
A rare congenital cystic lesion of the lungs in the mediastinum.
Colon diverticula
MedGen UID:
41628
Concept ID:
C0012811
Anatomical Abnormality
The presence of multiple diverticula of the colon.
Nausea and vomiting
MedGen UID:
45015
Concept ID:
C0027498
Sign or Symptom
Nausea is an uneasy or unsettled feeling in the stomach together with an urge to vomit. Nausea and vomiting, or throwing up, are not diseases. They can be symptoms of many different conditions. These include morning sickness during pregnancy, infections, migraine headaches, motion sickness, food poisoning, cancer chemotherapy or other medicines. . For vomiting in children and adults, avoid solid foods until vomiting has stopped for at least six hours. Then work back to a normal diet. Drink small amounts of clear liquids to avoid dehydration. Nausea and vomiting are common. Usually, they are not serious. You should see a doctor immediately if you suspect poisoning or if you have. -Vomited for longer than 24 hours. - Blood in the vomit. - Severe abdominal pain . - Headache and stiff neck . - Signs of dehydration, such as dry mouth, infrequent urination or dark urine .
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Enlargement of the spleen.
Hamartomatous polyposis
MedGen UID:
83109
Concept ID:
C0334092
Neoplastic Process
Polyp-like protrusions which are histologically hamartomas. These can occur throughout the gastrointestinal tract. Hamartomatous polyps are composed of the normal cellular elements of the gastrointestinal tract, but have a markedly distorted architecture.
Intestinal polyposis
MedGen UID:
152871
Concept ID:
C0744333
Finding
The presence of multiple polyps in the intestine.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Enlargement of the spleen.
Thymus hyperplasia
MedGen UID:
11809
Concept ID:
C0040115
Disease or Syndrome
Enlargement of the thymus.
Thyroiditis
MedGen UID:
21548
Concept ID:
C0040147
Disease or Syndrome
Inflammation of the thyroid gland.
Hyperostosis
MedGen UID:
9366
Concept ID:
C0020492
Disease or Syndrome
Increase in the mass of bone per unit volume.
Kyphosis deformity of spine
MedGen UID:
44042
Concept ID:
C0022821
Anatomical Abnormality
Deformities of the SPINE characterized by an exaggerated convexity of the vertebral column. The forward bending of the thoracic region usually is more than 40 degrees. This deformity sometimes is called round back or hunchback.
Congenital micrognathism
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Abnormally small jaw.
Osteochondrodysplasia
MedGen UID:
10495
Concept ID:
C0029422
Congenital Abnormality
A general term describing features characterized by abnormal development of bones and connective tissues.
Polydactyly of toes
MedGen UID:
510637
Concept ID:
C0158734
Congenital Abnormality
A kind of polydactyly characterized by the presence of a supernumerary toe or toes.
Long narrow head
MedGen UID:
65142
Concept ID:
C0221358
Congenital Abnormality
An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.
Maxillary hypoplasia
MedGen UID:
66804
Concept ID:
C0240310
Anatomical Abnormality
Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.
Class III malocclusion
MedGen UID:
98316
Concept ID:
C0399526
Finding
Abnormal prominence of the chin related to increased length of the mandible.
Genu recurvatum
MedGen UID:
107486
Concept ID:
C0546964
Anatomical Abnormality
An abnormal alignment of the knee backwards that is due to a deformity in the knee joint.
Scoliosis
MedGen UID:
195976
Concept ID:
C0700208
Finding
The presence of an abnormal lateral curvature of the spine.
Exostoses
MedGen UID:
257035
Concept ID:
C1442903
Pathologic Function
An exostosis is a benign growth the projects outward from the bone surface. It is cappped by cartilage, and arises from a bone that develops from cartilage.
Progressive macrocephaly
MedGen UID:
395368
Concept ID:
C1859896
Finding
The progressive development of an abnormally large skull.
Pectus excavatum
MedGen UID:
781174
Concept ID:
C2051831
Finding
A defect of the chest wall characterized by a depression of the sternum, giving the chest (\
Macrocephaly
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.
Dental malocclusion
MedGen UID:
9869
Concept ID:
C0024636
Anatomical Abnormality
Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns.
Congenital micrognathism
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Abnormally small jaw.
Microstomia
MedGen UID:
44435
Concept ID:
C0026034
Congenital Abnormality
A congenital defect in which the mouth is unusually small. (Dorland, 27th ed)
Plicated tongue
MedGen UID:
21583
Concept ID:
C0040412
Disease or Syndrome
Accentuation of the grooves on the dorsal surface of the tongue.
Long narrow head
MedGen UID:
65142
Concept ID:
C0221358
Congenital Abnormality
An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.
Maxillary hypoplasia
MedGen UID:
66804
Concept ID:
C0240310
Anatomical Abnormality
Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.
Byzanthine arch palate
MedGen UID:
66814
Concept ID:
C0240635
Congenital Abnormality
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Class III malocclusion
MedGen UID:
98316
Concept ID:
C0399526
Finding
Abnormal prominence of the chin related to increased length of the mandible.
Downward slant of palpebral fissure
MedGen UID:
98391
Concept ID:
C0423110
Finding
The palpebral fissure inclination is more than two standard deviations below the mean.
Abnormality of the tongue
MedGen UID:
451075
Concept ID:
C0878638
Sign or Symptom
Any abnormality of the tongue.
Anteverted nares
MedGen UID:
326648
Concept ID:
C1840077
Finding
Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).
Progressive macrocephaly
MedGen UID:
395368
Concept ID:
C1859896
Finding
The progressive development of an abnormally large skull.
Epibulbar dermoid
MedGen UID:
401267
Concept ID:
C1867616
Neoplastic Process
An epibulbar dermoid is a benign tumor typically found at the junction of the cornea and sclera (limbal epibullar dermoid).
Macrocephaly
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.
Shagreen patch
MedGen UID:
96599
Concept ID:
C0432363
Congenital Abnormality
A plaque representing a connective-tissue nevus. Connective tissue naevi are uncommon skin lesions that occur when the deeper layers of the skin do not develop correctly or the components of these layers occur in the wrong proportion. Shagreen patches are oval-shaped and nevoid, skin-colored or occasionally pigmented, smooth or crinkled, The word shagreen refers to a type of roughened untanned leather.
Multiple lipomas
MedGen UID:
677074
Concept ID:
C0745730
Finding
The presence of multiple lipomas (a type of benign tissue made of fatty tissue).
Subcutaneous lipoma
MedGen UID:
234674
Concept ID:
C1403035
Neoplastic Process
The presence of subcutaneous lipoma.
Hereditary palmoplantar keratoderma
MedGen UID:
44017
Concept ID:
C0022596
Disease or Syndrome
Hyperkeratosis affecting the palm of the hand and the sole of the foot.
Melanocytic nevus
MedGen UID:
14364
Concept ID:
C0027962
Neoplastic Process
A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger.
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.
Shagreen patch
MedGen UID:
96599
Concept ID:
C0432363
Congenital Abnormality
A plaque representing a connective-tissue nevus. Connective tissue naevi are uncommon skin lesions that occur when the deeper layers of the skin do not develop correctly or the components of these layers occur in the wrong proportion. Shagreen patches are oval-shaped and nevoid, skin-colored or occasionally pigmented, smooth or crinkled, The word shagreen refers to a type of roughened untanned leather.
Subcutaneous lipoma
MedGen UID:
234674
Concept ID:
C1403035
Neoplastic Process
The presence of subcutaneous lipoma.
Irregular hyperpigmentation
MedGen UID:
349760
Concept ID:
C1860236
Finding
Gynecomastia
MedGen UID:
6694
Concept ID:
C0018418
Disease or Syndrome
Abnormal development of large mammary glands in males resulting in breast enlargement.
Breast Carcinoma
MedGen UID:
146260
Concept ID:
C0678222
Neoplastic Process
The presence of a carcinoma of the breast.
Fibroadenoma of the breast
MedGen UID:
488966
Concept ID:
C1328386
Neoplastic Process
A benign biphasic tumor of the breast with epithelial and stromal components.

Term Hierarchy

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

Professional guidelines

PubMed

Daly MB, Pilarski R, Axilbund JE, Buys SS, Crawford B, Friedman S, Garber JE, Horton C, Kaklamani V, Klein C, Kohlmann W, Kurian A, Litton J, Madlensky L, Marcom PK, Merajver SD, Offit K, Pal T, Pasche B, Reiser G, Shannon KM, Swisher E, Voian NC, Weitzel JN, Whelan A, Wiesner GL, Dwyer MA, Kumar R; National comprehensive cancer network
J Natl Compr Canc Netw 2014 Sep;12(9):1326-38. PMID: 25190698

Recent clinical studies

Etiology

Yehia L, Niazi F, Ni Y, Ngeow J, Sankunny M, Liu Z, Wei W, Mester JL, Keri RA, Zhang B, Eng C
Am J Hum Genet 2015 Nov 5;97(5):661-76. Epub 2015 Oct 29 doi: 10.1016/j.ajhg.2015.10.001. [Epub ahead of print] PMID: 26522472Free PMC Article
Agarwal R, Liebe S, Turski ML, Vidwans SJ, Janku F, Garrido-Laguna I, Munoz J, Schwab R, Rodon J, Kurzrock R, Subbiah V; Pan-Cancer Working Group
Discov Med 2015 Feb;19(103):109-16. PMID: 25725225
Yu W, He X, Ni Y, Ngeow J, Eng C
Hum Mol Genet 2015 Jan 1;24(1):142-53. Epub 2014 Aug 22 doi: 10.1093/hmg/ddu425. [Epub ahead of print] PMID: 25149476Free PMC Article
Mester J, Eng C
J Surg Oncol 2015 Jan;111(1):125-30. Epub 2014 Aug 11 doi: 10.1002/jso.23735. [Epub ahead of print] PMID: 25132236
Seo M, Cho N, Ahn HS, Moon HG
Korean J Radiol 2014 Sep-Oct;15(5):586-90. Epub 2014 Sep 12 doi: 10.3348/kjr.2014.15.5.586. PMID: 25246819Free PMC Article

Diagnosis

Cameselle-Teijeiro J, Fachal C, Cabezas-Agrícola JM, Alfonsín-Barreiro N, Abdulkader I, Vega-Gliemmo A, Hermo JA
Am J Clin Pathol 2015 Aug;144(2):322-8. doi: 10.1309/AJCP84INGJUVTBME. PMID: 26185318
Taylor A, Delon I, Allinson K, Trotman J, Liu H, Abbs S, Tischkowitz M
J Neuropathol Exp Neurol 2015 Apr;74(4):288-92. doi: 10.1097/NEN.0000000000000178. PMID: 25756585
Wu TY, Willoughby E, Hutchinson DO, Brew S, McGuinness B, Lopes R, Love DR, Roxburgh RH
J Clin Neurosci 2015 Feb;22(2):431-3. Epub 2014 Oct 7 doi: 10.1016/j.jocn.2014.07.023. [Epub ahead of print] PMID: 25304432
Seo M, Cho N, Ahn HS, Moon HG
Korean J Radiol 2014 Sep-Oct;15(5):586-90. Epub 2014 Sep 12 doi: 10.3348/kjr.2014.15.5.586. PMID: 25246819Free PMC Article
Nakamura M, Hirooka Y, Yamamura T, Yamada K, Nagura A, Yoshimura T, Ohmiya N, Uehara K, Yoshioka Y, Nagino M, Goto H
Dig Endosc 2014 Sep;26(5):673-5. Epub 2013 Sep 30 doi: 10.1111/den.12167. [Epub ahead of print] PMID: 24118605

Therapy

Metzger R, Milas M
Curr Opin Oncol 2014 Jan;26(1):51-61. doi: 10.1097/CCO.0000000000000030. PMID: 24300902
Hung JA, Rajeev P
Ann R Coll Surg Engl 2013 Oct;95(7):457-60. doi: 10.1308/003588413X13629960048118. PMID: 24112488
Galanopoulou AS, Gorter JA, Cepeda C
Epilepsia 2012 Jul;53(7):1119-30. Epub 2012 May 11 doi: 10.1111/j.1528-1167.2012.03506.x. [Epub ahead of print] PMID: 22578218Free PMC Article
Natali D, Girerd B, Montani D, Soubrier F, Simonneau G, Humbert M, Sitbon O
Chest 2011 Oct;140(4):1066-8. doi: 10.1378/chest.10-2588. PMID: 21972386
Haidinger M, Werzowa J, Weichhart T, Säemann MD
Transplant Rev (Orlando) 2011 Oct;25(4):145-53. Epub 2011 Mar 17 doi: 10.1016/j.trre.2010.11.001. [Epub ahead of print] PMID: 21419611

Prognosis

Yehia L, Niazi F, Ni Y, Ngeow J, Sankunny M, Liu Z, Wei W, Mester JL, Keri RA, Zhang B, Eng C
Am J Hum Genet 2015 Nov 5;97(5):661-76. Epub 2015 Oct 29 doi: 10.1016/j.ajhg.2015.10.001. [Epub ahead of print] PMID: 26522472Free PMC Article
Ngeow J, Ni Y, Tohme R, Song Chen F, Bebek G, Eng C
J Clin Endocrinol Metab 2014 Jul;99(7):E1316-21. Epub 2014 Apr 8 doi: 10.1210/jc.2014-1225. [Epub ahead of print] PMID: 24712574
Stathopoulos P, Raymond A, Esson M
Oral Maxillofac Surg 2014 Jun;18(2):229-35. Epub 2014 Apr 1 doi: 10.1007/s10006-014-0445-6. [Epub ahead of print] PMID: 24687348
Nakamura M, Hirooka Y, Yamamura T, Yamada K, Nagura A, Yoshimura T, Ohmiya N, Uehara K, Yoshioka Y, Nagino M, Goto H
Dig Endosc 2014 Sep;26(5):673-5. Epub 2013 Sep 30 doi: 10.1111/den.12167. [Epub ahead of print] PMID: 24118605
Kersseboom R, Dubbink HJ, Corver WE, van Tilburg AJ, Poley JW, van Leerdam ME, Atmodimedjo PN, van de Laar IM, Collée JM, Dinjens WN, Morreau H, Wagner A
Clin Genet 2012 Jun;81(6):555-62. Epub 2011 Mar 9 doi: 10.1111/j.1399-0004.2011.01639.x. [Epub ahead of print] PMID: 21291452

Clinical prediction guides

Ngeow J, Ni Y, Tohme R, Song Chen F, Bebek G, Eng C
J Clin Endocrinol Metab 2014 Jul;99(7):E1316-21. Epub 2014 Apr 8 doi: 10.1210/jc.2014-1225. [Epub ahead of print] PMID: 24712574
Nakamura M, Hirooka Y, Yamamura T, Yamada K, Nagura A, Yoshimura T, Ohmiya N, Uehara K, Yoshioka Y, Nagino M, Goto H
Dig Endosc 2014 Sep;26(5):673-5. Epub 2013 Sep 30 doi: 10.1111/den.12167. [Epub ahead of print] PMID: 24118605
Jin M, Hampel H, Pilarski R, Zhou X, Peters S, Frankel WL
Am J Dermatopathol 2013 Aug;35(6):637-40. doi: 10.1097/DAD.0b013e31827e28f7. PMID: 23715080
Milas M, Mester J, Metzger R, Shin J, Mitchell J, Berber E, Siperstein AE, Eng C
Surgery 2012 Dec;152(6):1201-10. doi: 10.1016/j.surg.2012.08.055. PMID: 23158187
Lewis CM, Bu D, Sarode V, Robinson L, Wilson KS, Viscusi RK, Eng C, Euhus DM
Breast Cancer Res Treat 2012 Dec;136(3):911-8. Epub 2012 Nov 7 doi: 10.1007/s10549-012-2322-z. [Epub ahead of print] PMID: 23132533

Recent systematic reviews

Lancaster JM, Powell CB, Chen LM, Richardson DL; SGO Clinical Practice Committee
Gynecol Oncol 2015 Jan;136(1):3-7. Epub 2014 Sep 17 doi: 10.1016/j.ygyno.2014.09.009. [Epub ahead of print] PMID: 25238946
Stanich PP, Pilarski R, Rock J, Frankel WL, El-Dika S, Meyer MM
World J Gastroenterol 2014 Feb 21;20(7):1833-8. doi: 10.3748/wjg.v20.i7.1833. PMID: 24587660Free PMC Article
Pilarski R, Burt R, Kohlman W, Pho L, Shannon KM, Swisher E
J Natl Cancer Inst 2013 Nov 6;105(21):1607-16. Epub 2013 Oct 17 doi: 10.1093/jnci/djt277. [Epub ahead of print] PMID: 24136893
Hall JE, Abdollahian DJ, Sinard RJ
Head Neck 2013 Aug;35(8):1189-94. Epub 2012 Mar 20 doi: 10.1002/hed.22971. [Epub ahead of print] PMID: 22431287
Pilarski R
J Genet Couns 2009 Feb;18(1):13-27. Epub 2008 Oct 30 doi: 10.1007/s10897-008-9187-7. [Epub ahead of print] PMID: 18972196

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