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Exostoses

MedGen UID:
257035
Concept ID:
C1442903
Disease or Syndrome
Synonym: Exostosis
SNOMED CT: Exostosis (80400009); Bony outgrowth (80400009); Exostosis (416189003); Exostosis - disorder (416189003); Exostosis disorder (416189003)
 
HPO: HP:0100777
Monarch Initiative: MONDO:0002181

Definition

An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage. [from HPO]

Conditions with this feature

Exostosis of external ear canal
MedGen UID:
56363
Concept ID:
C0155411
Disease or Syndrome
A benign bony growth projecting outward from a bone surface within the external auditory canal.
Cutis laxa, X-linked
MedGen UID:
82793
Concept ID:
C0268353
Congenital Abnormality
Occipital horn syndrome (OHS) is a rare connective tissue disorder characterized by hyperelastic and bruisable skin, hernias, bladder diverticula, hyperextensible joints, varicosities, and multiple skeletal abnormalities. The disorder is sometimes accompanied by mild neurologic impairment, and bony abnormalities of the occiput are a common feature, giving rise to the name (summary by Das et al., 1995).
Exostoses of heel
MedGen UID:
209099
Concept ID:
C0877431
Disease or Syndrome
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
MedGen UID:
393098
Concept ID:
C2674173
Congenital Abnormality
SADDAN dysplasia (severe achondroplasia with developmental delay and acanthosis nigricans) is a very rare skeletal dysplasia characterized by the constellation of these features. Radiology reveals 'ram's horn' shaped clavicles and reverse bowing of lower limbs. Approximately half of patients die before the fourth week of life secondary to respiratory failure (summary by Zankl et al., 2008).
Cornelia de Lange syndrome 4
MedGen UID:
766431
Concept ID:
C3553517
Disease or Syndrome
Cornelia de Lange syndrome (CdLS) encompasses a spectrum of findings from mild to severe. Severe (classic) CdLS is characterized by distinctive facial features, growth restriction (prenatal onset; <5th centile throughout life), hypertrichosis, and upper-limb reduction defects that range from subtle phalangeal abnormalities to oligodactyly (missing digits). Craniofacial features include synophrys, highly arched and/or thick eyebrows, long eyelashes, short nasal bridge with anteverted nares, small widely spaced teeth, and microcephaly. Individuals with a milder phenotype have less severe growth, cognitive, and limb involvement, but often have facial features consistent with CdLS. Across the CdLS spectrum IQ ranges from below 30 to 102 (mean: 53). Many individuals demonstrate autistic and self-destructive tendencies. Other frequent findings include cardiac septal defects, gastrointestinal dysfunction, hearing loss, myopia, and cryptorchidism or hypoplastic genitalia.
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
MedGen UID:
777109
Concept ID:
C3665488
Disease or Syndrome
Patients with SSOAD exhibit a broad phenotypic spectrum involving short stature associated with advanced bone maturation and early-onset osteoarthritis (OA), as well as mild dysmorphic features consisting of midface hypoplasia, brachydactyly, broad great toes, and lumbar lordosis. Other features include intervertebral disc disease and osteochondritis dissecans, which is characterized by separation of articular cartilage and subchondral bone from the articular surface. Phenotypes are highly variable even among patients within the same family, and there are no apparent genotype-phenotype correlations (Dateki et al., 2017). The term 'dissecans' comes from 'dis' meaning 'from' and 'secare' meaning 'cut off,' and is not to be confused with 'desiccans' derived from 'desiccare' meaning to 'dry up.' Dissecans refers to the appearance of part of the bone having been cut away.

Professional guidelines

PubMed

Michels TC, Duffy MT, Rogers DJ
Am Fam Physician 2019 Jul 15;100(2):98-108. PMID: 31305044
Li Y, Wang J, Wang Z, Tang J, Yu T
BMC Med Genet 2017 Nov 10;18(1):126. doi: 10.1186/s12881-017-0488-2. PMID: 29126381Free PMC Article
Schwartz SR, Magit AE, Rosenfeld RM, Ballachanda BB, Hackell JM, Krouse HJ, Lawlor CM, Lin K, Parham K, Stutz DR, Walsh S, Woodson EA, Yanagisawa K, Cunningham ER Jr
Otolaryngol Head Neck Surg 2017 Jan;156(1_suppl):S1-S29. doi: 10.1177/0194599816671491. PMID: 28045591

Recent clinical studies

Etiology

Sharif B, Lindsay D, Saifuddin A
Skeletal Radiol 2022 Apr;51(4):747-762. Epub 2021 Jul 24 doi: 10.1007/s00256-021-03870-0. PMID: 34302201
Lyutenski S, James P, Bloching M
Am J Otolaryngol 2021 Nov-Dec;42(6):103114. Epub 2021 Jun 18 doi: 10.1016/j.amjoto.2021.103114. PMID: 34166964
Tumturk A, Gorkem SB, Ozmansur EN, Peduk Y, Arslan U, Gok V, Dogan H, Cetin BS, Sahin A, Gumus H, Guney A, Unal E, Kurtsoy A, Per H
Turk Neurosurg 2021;31(3):389-398. doi: 10.5137/1019-5149.JTN.31359-20.2. PMID: 33759163
Komura S, Matsumoto K, Hirakawa A, Akiyama H
J Hand Surg Am 2021 Sep;46(9):815.e1-815.e12. Epub 2021 Feb 26 doi: 10.1016/j.jhsa.2020.12.011. PMID: 33642092
Jurik AG
Best Pract Res Clin Rheumatol 2020 Jun;34(3):101505. Epub 2020 Apr 4 doi: 10.1016/j.berh.2020.101505. PMID: 32253147

Diagnosis

Shah SN
Indian J Pathol Microbiol 2021 Jul-Sep;64(3):598-599. doi: 10.4103/IJPM.IJPM_656_20. PMID: 34341284
Russell JD, Nance K, Nunley JR, Maher IA
Cutis 2016 Aug;98(2):128-9. PMID: 27622256
DuBose CO
Radiol Technol 2016 Jan-Feb;87(3):305-21. quiz 322-5. PMID: 26721841
Bovée JV
Orphanet J Rare Dis 2008 Feb 13;3:3. doi: 10.1186/1750-1172-3-3. PMID: 18271966Free PMC Article
Baran R, Richert B
Dermatol Clin 2006 Jul;24(3):297-311. doi: 10.1016/j.det.2006.03.002. PMID: 16798427

Therapy

Serra-Vinardell J, Roca-Ayats N, De-Ugarte L, Vilageliu L, Balcells S, Grinberg D
J Inherit Metab Dis 2020 Jan;43(1):133-144. Epub 2019 Apr 29 doi: 10.1002/jimd.12097. PMID: 30942483
Schwartz SR, Magit AE, Rosenfeld RM, Ballachanda BB, Hackell JM, Krouse HJ, Lawlor CM, Lin K, Parham K, Stutz DR, Walsh S, Woodson EA, Yanagisawa K, Cunningham ER Jr
Otolaryngol Head Neck Surg 2017 Jan;156(1_suppl):S1-S29. doi: 10.1177/0194599816671491. PMID: 28045591
DaCambra MP, Gupta SK, Ferri-de-Barros F
Clin Orthop Relat Res 2014 Apr;472(4):1251-9. Epub 2013 Oct 22 doi: 10.1007/s11999-013-3345-4. PMID: 24146360Free PMC Article
Ottaviani G, Jaffe N
Cancer Treat Res 2009;152:15-32. doi: 10.1007/978-1-4419-0284-9_2. PMID: 20213384
Zoltan TB, Taylor KS, Achar SA
Am Fam Physician 2005 Jun 15;71(12):2313-7. PMID: 15999868

Prognosis

De Feyter S, Beyens A, Callewaert B
J Inherit Metab Dis 2023 Mar;46(2):163-173. Epub 2023 Feb 3 doi: 10.1002/jimd.12590. PMID: 36692329
Komura S, Matsumoto K, Hirakawa A, Akiyama H
J Hand Surg Am 2021 Sep;46(9):815.e1-815.e12. Epub 2021 Feb 26 doi: 10.1016/j.jhsa.2020.12.011. PMID: 33642092
Bauer T
Orthop Traumatol Surg Res 2014 Feb;100(1 Suppl):S191-204. Epub 2014 Jan 9 doi: 10.1016/j.otsr.2013.06.017. PMID: 24412043
Richert B, Lecerf P, Caucanas M, André J
Clin Dermatol 2013 Sep-Oct;31(5):602-17. doi: 10.1016/j.clindermatol.2013.06.014. PMID: 24079590
Bovée JV
Orphanet J Rare Dis 2008 Feb 13;3:3. doi: 10.1186/1750-1172-3-3. PMID: 18271966Free PMC Article

Clinical prediction guides

De Feyter S, Beyens A, Callewaert B
J Inherit Metab Dis 2023 Mar;46(2):163-173. Epub 2023 Feb 3 doi: 10.1002/jimd.12590. PMID: 36692329
Wang W, Yang M, Shen Y, Chen K, Wu D, Yang C, Bai J, He D, Gao J
Mol Med Rep 2022 Apr;25(4) Epub 2022 Feb 25 doi: 10.3892/mmr.2022.12657. PMID: 35211766Free PMC Article
Komura S, Matsumoto K, Hirakawa A, Akiyama H
J Hand Surg Am 2021 Sep;46(9):815.e1-815.e12. Epub 2021 Feb 26 doi: 10.1016/j.jhsa.2020.12.011. PMID: 33642092
Michels TC, Duffy MT, Rogers DJ
Am Fam Physician 2019 Jul 15;100(2):98-108. PMID: 31305044
Carbone PN, Nelson BL
Head Neck Pathol 2012 Jun;6(2):244-6. Epub 2011 Dec 20 doi: 10.1007/s12105-011-0314-7. PMID: 22183765Free PMC Article

Recent systematic reviews

De Feyter S, Beyens A, Callewaert B
J Inherit Metab Dis 2023 Mar;46(2):163-173. Epub 2023 Feb 3 doi: 10.1002/jimd.12590. PMID: 36692329
Livingstone DM, Smith KA, Lange B
Diving Hyperb Med 2017 Jun;47(2):97-109. doi: 10.28920/dhm47.2.97-109. PMID: 28641322Free PMC Article
Bertazzo-Silveira E, Stuginski-Barbosa J, Porporatti AL, Dick B, Flores-Mir C, Manfredini D, De Luca Canto G
Clin Oral Investig 2017 Dec;21(9):2789-2799. Epub 2017 Feb 17 doi: 10.1007/s00784-017-2081-7. PMID: 28213765
Sonne-Holm E, Wong C, Sonne-Holm S
Dan Med J 2014 Sep;61(9):A4895. PMID: 25186537
DaCambra MP, Gupta SK, Ferri-de-Barros F
Clin Orthop Relat Res 2014 Apr;472(4):1251-9. Epub 2013 Oct 22 doi: 10.1007/s11999-013-3345-4. PMID: 24146360Free PMC Article

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