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Polyposis, intestinal, with multiple exostoses

MedGen UID:
401357
Concept ID:
C1868005
Neoplastic Process
Synonym: Polyposis, Intestinal, With Multiple Exostoses
 
Monarch Initiative: MONDO:0008282
OMIM®: 175450

Clinical features

From HPO
Intestinal polyposis
MedGen UID:
219797
Concept ID:
C1257915
Disease or Syndrome
The presence of multiple polyps in the intestine.
Multiple congenital exostosis
MedGen UID:
4612
Concept ID:
C0015306
Congenital Abnormality
Hereditary multiple osteochondromas (HMO), previously called hereditary multiple exostoses (HME), is characterized by growths of multiple osteochondromas, benign cartilage-capped bone tumors that grow outward from the metaphyses of long bones. Osteochondromas can be associated with a reduction in skeletal growth, bony deformity, restricted joint motion, shortened stature, premature osteoarthrosis, and compression of peripheral nerves. The median age of diagnosis is three years; nearly all affected individuals are diagnosed by age 12 years. The risk for malignant degeneration to osteochondrosarcoma increases with age, although the lifetime risk for malignant degeneration is low (~2%-5%).

Recent clinical studies

Etiology

Gajewska-Obel E, Gebala A, Rusin T, Rozynkowa O
Pol Med Sci Hist Bull (1973) 1975 Jul-Aug;15(4):473-8. PMID: 1223834

Diagnosis

Antal G, Zsigmond A, Till Á, Orsi E, Szanto I, Büki G, Kereskai L, Herbert Z, Hadzsiev K, Bene J
Pathol Oncol Res 2024;30:1611768. Epub 2024 May 14 doi: 10.3389/pore.2024.1611768. PMID: 38807857Free PMC Article
Costa AG, Costa RO, de Oliveira LR, Grossmann S
Gen Dent 2013 Jul;61(4):e12-4. PMID: 23823353
Jones K, Korzcak P
Br J Oral Maxillofac Surg 1990 Apr;28(2):80-4. doi: 10.1016/0266-4356(90)90126-6. PMID: 2337567
Antoniades K, Eleftheriades I, Karakasis D
Int J Oral Maxillofac Surg 1987 Aug;16(4):480-3. doi: 10.1016/s0901-5027(87)80089-9. PMID: 3117924
Gajewska-Obel E, Gebala A, Rusin T, Rozynkowa O
Pol Med Sci Hist Bull (1973) 1975 Jul-Aug;15(4):473-8. PMID: 1223834

Clinical prediction guides

Costa AG, Costa RO, de Oliveira LR, Grossmann S
Gen Dent 2013 Jul;61(4):e12-4. PMID: 23823353
Baykul T, Heybeli N, Oyar O, Doğru H
Auris Nasus Larynx 2003 Dec;30(4):447-51. doi: 10.1016/s0385-8146(03)00063-4. PMID: 14656576

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