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Items: 1 to 20 of 42

1.

Polyposis

The development of numerous polyps (growths that protrude from a mucous membrane). [from NCI_NCI-GLOSS]

MedGen UID:
137722
Concept ID:
C0334108
Neoplastic Process
2.

Carcinoma of colon

Lynch syndrome is characterized by an increased risk for colorectal cancer (CRC) and cancers of the endometrium, stomach, ovary, small bowel, hepatobiliary tract, urinary tract, brain, and skin. In individuals with Lynch syndrome the following lifetime risks for cancer are seen: CRC: 52%-82% (mean age at diagnosis 44-61 years). Endometrial cancer in females: 25%-60% (mean age at diagnosis 48-62 years). Gastric cancer: 6%-13% (mean age at diagnosis 56 years). Ovarian cancer: 4%-12% (mean age at diagnosis 42.5 years; ~30% are diagnosed < age 40 years). The risk for other Lynch syndrome-related cancers is lower, though substantially increased over general population rates. [from GeneReviews]

MedGen UID:
147065
Concept ID:
C0699790
Neoplastic Process
3.

Fibrous tissue neoplasm

A benign, intermediate, or malignant mesenchymal neoplasm characterized by the presence of neoplastic fibroblasts. [from NCI]

MedGen UID:
60198
Concept ID:
C0206643
Neoplastic Process
4.

Desmoid tumors

A childhood counterpart of abdominal or extra-abdominal desmoid tumors, characterized by firm subcutaneous nodules that grow rapidly in any part of the body but do not metastasize. The adult form of abdominal fibromatosis is FIBROMATOSIS, ABDOMINAL. (Stedman, 25th ed) [from MeSH]

MedGen UID:
38187
Concept ID:
C0079218
Neoplastic Process
5.

Oligodontia-colorectal cancer syndrome

MedGen UID:
324868
Concept ID:
C1837750
Neoplastic Process
6.

Velofacioskeletal syndrome

MedGen UID:
322177
Concept ID:
C1833380
Disease or Syndrome
7.

TAFRO syndrome

MedGen UID:
891643
Concept ID:
CN237773
Disease or Syndrome
8.

Bronchiectasis-oligospermia syndrome

MedGen UID:
833318
Concept ID:
CN228924
Disease or Syndrome
9.

Carpotarsal osteochondromatosis

MedGen UID:
722021
Concept ID:
C1300233
Neoplastic Process
10.

Witteveen-kolk syndrome

The 15q24 microdeletion syndrome is characterized by global developmental delay; mild to severe (usually at least moderate) intellectual disability; facial dysmorphisms; congenital malformations of the hands and feet, eye, and genitalia; joint laxity; and growth retardation and failure to thrive. Less common findings include: seizures; conductive and sensorineural hearing loss; hypospadias and/ or micropenis. Males and females are affected equally. [from GeneReviews]

MedGen UID:
462024
Concept ID:
C3150674
Disease or Syndrome
11.

Klein-Waardenberg syndrome

Waardenburg syndrome type 3 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; presence of 'dystopia canthorum,' the lateral displacement of the ocular inner canthi; and upper limb abnormalities (reviews by Read and Newton, 1997 and Pingault et al., 2010). WS type 3 is also referred to as 'Klein-Waardenburg syndrome' (Gorlin et al., 1976). Clinical Variability of Waardenburg Syndrome Types 1-4 Waardenburg syndrome has been classified into 4 main phenotypes. Type I Waardenburg syndrome (WS1; 193500) is characterized by pigmentary abnormalities of the hair, including a white forelock and premature graying; pigmentary changes of the iris, such as heterochromia iridis and brilliant blue eyes; congenital sensorineural hearing loss; and 'dystopia canthorum.' WS type II (WS2) is distinguished from type I by the absence of dystopia canthorum. WS type III has dystopia canthorum and is distinguished by the presence of upper limb abnormalities. WS type IV (WS4; 277580), also known as Waardenburg-Shah syndrome, has the additional feature of Hirschsprung disease (reviews by Read and Newton, 1997 and Pingault et al., 2010). [from OMIM]

MedGen UID:
449531
Concept ID:
C0342680
Disease or Syndrome
12.

Ectrodactyly-spina bifida-cardiopathy syndrome

MedGen UID:
444045
Concept ID:
C2931393
Disease or Syndrome
13.

Colorectal cancer 5

MedGen UID:
393664
Concept ID:
C2677122
Finding
14.

Cerebrorenodigital syndrome with limb malformations and triradiate acetabula

MedGen UID:
373053
Concept ID:
C1836287
Disease or Syndrome
15.

Jankovic Rivera syndrome

The spectrum of ASAH1-related disorders ranges from Farber disease (FD) to spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME). Classic FD is characterized by onset in the first weeks of life of painful, progressive deformity of the major joints; palpable subcutaneous nodules of joints and mechanical pressure points; and a hoarse cry resulting from granulomas of the larynx and epiglottis. Life expectancy is usually less than two years. In the other less common types of FD, onset, severity, and primary manifestations vary. SMA-PME is characterized by early-childhood-onset progressive lower motor neuron disease manifest typically between ages three and seven years as proximal lower-extremity weakness, followed by progressive myoclonic and atonic seizures, tremulousness/tremor, and sensorineural hearing loss. Myoclonic epilepsy typically begins in late childhood after the onset of weakness and can include jerking of the upper limbs, action myoclonus, myoclonic status, and eyelid myoclonus. Other findings include generalized tremor, and cognitive decline. The time from disease onset to death from respiratory complications is usually five to 15 years. [from GeneReviews]

MedGen UID:
371854
Concept ID:
C1834569
Disease or Syndrome
16.

Blepharofacioskeletal syndrome

Schilbach-Rott syndrome is an autosomal dominant disorder characterized by hypotelorism, epicanthal folds, cleft palate, dysmorphic facies, and hypospadias in males. The phenotype is variable; mild mental retardation has been reported (summary by Shkalim et al., 2009). [from OMIM]

MedGen UID:
371716
Concept ID:
C1834038
Disease or Syndrome
17.

Diaphragmatic defects, limb deficiencies, and ossification defects of skull

MedGen UID:
371377
Concept ID:
C1832668
Disease or Syndrome
18.

Chitty Hall Baraitser syndrome

This syndrome has characteristics of sensorineural deafness, short stature, femoral epiphyseal dysplasia, umbilical and inguinal hernias and developmental delay (growth retardation and mild intellectual deficit). It has been described in two brothers born to consanguineous parents. They also have dysmorphic features (triangular face, pointed chin) and bilateral obstruction of lacrimal ducts. This syndrome is transmitted as an autosomal recessive trait. [from SNOMEDCT_US]

MedGen UID:
371330
Concept ID:
C1832438
Disease or Syndrome
19.

Ectodermal dysplasia, hidrotic, Christianson-Fourie type

MedGen UID:
371322
Concept ID:
C1832411
Disease or Syndrome
20.

Goldberg-Shprintzen megacolon syndrome

Goldberg-Shprintzen syndrome is an autosomal recessive multiple congenital anomaly syndrome characterized by intellectual disability, microcephaly, and dysmorphic facial features. Most patients also have Hirschsprung disease and/or gyral abnormalities of the brain, consistent with defects in migration of neural crest cells and neurons. Other features, such as megalocornea or urogenital anomalies, may also be present. Goldberg-Shprintzen syndrome has some resemblance to Mowat-Wilson syndrome (MOWS; 235730) but is genetically distinct (summary by Drevillon et al., 2013). Yomo et al. (1991) referred to this disorder as Goldberg-Shprintzen syndrome, which should not be confused with Shprintzen-Goldberg craniosynostosis syndrome (182212) or 2 other Shprintzen syndromes (192430, 182210). [from OMIM]

MedGen UID:
332131
Concept ID:
C1836123
Disease or Syndrome
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