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Long coccyx

MedGen UID:
478746
Concept ID:
C3277116
Finding
Synonym: Long tailbone
 
HPO: HP:0002831

Conditions with this feature

Metatropic dysplasia
MedGen UID:
82699
Concept ID:
C0265281
Congenital Abnormality
The autosomal dominant TRPV4 disorders (previously considered to be clinically distinct phenotypes before their molecular basis was discovered) are now grouped into neuromuscular disorders and skeletal dysplasias; however, the overlap within each group is considerable. Affected individuals typically have either neuromuscular or skeletal manifestations alone, and in only rare instances an overlap syndrome has been reported. The three autosomal dominant neuromuscular disorders (mildest to most severe) are: Charcot-Marie-Tooth disease type 2C. Scapuloperoneal spinal muscular atrophy. Congenital distal spinal muscular atrophy. The autosomal dominant neuromuscular disorders are characterized by a congenital-onset, static, or later-onset progressive peripheral neuropathy with variable combinations of laryngeal dysfunction (i.e., vocal fold paresis), respiratory dysfunction, and joint contractures. The six autosomal dominant skeletal dysplasias (mildest to most severe) are: Familial digital arthropathy-brachydactyly. Autosomal dominant brachyolmia. Spondylometaphyseal dysplasia, Kozlowski type. Spondyloepiphyseal dysplasia, Maroteaux type. Parastremmatic dysplasia. Metatropic dysplasia. The skeletal dysplasia is characterized by brachydactyly (in all 6); the five that are more severe have short stature that varies from mild to severe with progressive spinal deformity and involvement of the long bones and pelvis. In the mildest of the autosomal dominant TRPV4 disorders life span is normal; in the most severe it is shortened. Bilateral progressive sensorineural hearing loss (SNHL) can occur with both autosomal dominant neuromuscular disorders and skeletal dysplasias.

Professional guidelines

PubMed

Sukun A, Cankurtaran T, Agildere M, Weber MA
Rofo 2024 Jun;196(6):560-572. Epub 2023 Nov 9 doi: 10.1055/a-2185-8585. PMID: 37944937
Fumino S, Tajiri T, Usui N, Tamura M, Sago H, Ono S, Nosaka S, Yoneda A, Souzaki R, Higashi M, Sakai K, Takahashi K, Sugiura T, Taguchi T
Pediatr Int 2019 Jul;61(7):672-678. Epub 2019 Jun 18 doi: 10.1111/ped.13844. PMID: 30903638
Bethke KP, Neifeld JP, Lawrence W Jr
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Recent clinical studies

Etiology

Sukun A, Cankurtaran T, Agildere M, Weber MA
Rofo 2024 Jun;196(6):560-572. Epub 2023 Nov 9 doi: 10.1055/a-2185-8585. PMID: 37944937
Fumino S, Tajiri T, Usui N, Tamura M, Sago H, Ono S, Nosaka S, Yoneda A, Souzaki R, Higashi M, Sakai K, Takahashi K, Sugiura T, Taguchi T
Pediatr Int 2019 Jul;61(7):672-678. Epub 2019 Jun 18 doi: 10.1111/ped.13844. PMID: 30903638
Dampc B, Słowiński K
Pol Przegl Chir 2017 Aug 31;89(4):33-40. doi: 10.5604/01.3001.0010.3909. PMID: 28905802
Bergstrom N, Horn SD, Rapp M, Stern A, Barrett R, Watkiss M, Krahn M
Ont Health Technol Assess Ser 2014;14(11):1-32. Epub 2014 Oct 1 PMID: 26330893Free PMC Article
Leggett LE, Soril LJ, Lorenzetti DL, Noseworthy T, Steadman R, Tiwana S, Clement F
Pain Res Manag 2014 Sep-Oct;19(5):e146-53. Epub 2014 Jul 28 doi: 10.1155/2014/834369. PMID: 25068973Free PMC Article

Diagnosis

Sukun A, Cankurtaran T, Agildere M, Weber MA
Rofo 2024 Jun;196(6):560-572. Epub 2023 Nov 9 doi: 10.1055/a-2185-8585. PMID: 37944937
Mlčochová G, Kučerová L, Rousková B, Rygl M, Prosová B, Matěcha J, Černý M, Hercíková L, Sochůrek J, Fait T
Ceska Gynekol 2019 Winter;84(2):140-144. PMID: 31238684
Dampc B, Słowiński K
Pol Przegl Chir 2017 Aug 31;89(4):33-40. doi: 10.5604/01.3001.0010.3909. PMID: 28905802
Bergstrom N, Horn SD, Rapp M, Stern A, Barrett R, Watkiss M, Krahn M
Ont Health Technol Assess Ser 2014;14(11):1-32. Epub 2014 Oct 1 PMID: 26330893Free PMC Article
Patijn J, Janssen M, Hayek S, Mekhail N, Van Zundert J, van Kleef M
Pain Pract 2010 Nov-Dec;10(6):554-9. Epub 2010 Sep 6 doi: 10.1111/j.1533-2500.2010.00404.x. PMID: 20825565

Therapy

Romsom J, Leenders MWH
BMJ Case Rep 2024 Jun 5;17(6) doi: 10.1136/bcr-2023-259493. PMID: 38839400
Ahadi T, Hosseinverdi S, Raissi G, Sajadi S, Forogh B
Am J Phys Med Rehabil 2022 May 1;101(5):417-422. Epub 2021 Jun 7 doi: 10.1097/PHM.0000000000001802. PMID: 34091468
Carswell AT, Eastman KG, Casey A, Hammond M, Shepstone L, Payerne E, Toms AP, MacKay JW, Swart AM, Greeves JP, Fraser WD
Trials 2021 Aug 30;22(1):580. doi: 10.1186/s13063-021-05556-3. PMID: 34461961Free PMC Article
Bergstrom N, Horn SD, Rapp M, Stern A, Barrett R, Watkiss M, Krahn M
Ont Health Technol Assess Ser 2014;14(11):1-32. Epub 2014 Oct 1 PMID: 26330893Free PMC Article
Leggett LE, Soril LJ, Lorenzetti DL, Noseworthy T, Steadman R, Tiwana S, Clement F
Pain Res Manag 2014 Sep-Oct;19(5):e146-53. Epub 2014 Jul 28 doi: 10.1155/2014/834369. PMID: 25068973Free PMC Article

Prognosis

Hochgatterer R, Gahleitner M, Allerstorfer J, Maier J, Luger M, Großbötzl G, Gotterbarm T, Pisecky L
Eur Spine J 2021 Apr;30(4):1072-1076. Epub 2020 Nov 3 doi: 10.1007/s00586-020-06627-w. PMID: 33141347
Fumino S, Tajiri T, Usui N, Tamura M, Sago H, Ono S, Nosaka S, Yoneda A, Souzaki R, Higashi M, Sakai K, Takahashi K, Sugiura T, Taguchi T
Pediatr Int 2019 Jul;61(7):672-678. Epub 2019 Jun 18 doi: 10.1111/ped.13844. PMID: 30903638
Zhan MJ, Fan F, Qiu LR, Peng Z, Zhang K, Deng ZH
Leg Med (Tokyo) 2018 Sep;34:21-26. Epub 2018 Jul 26 doi: 10.1016/j.legalmed.2018.07.003. PMID: 30098582
Bergstrom N, Horn SD, Rapp M, Stern A, Barrett R, Watkiss M, Krahn M
Ont Health Technol Assess Ser 2014;14(11):1-32. Epub 2014 Oct 1 PMID: 26330893Free PMC Article
Göbel U, Schneider DT, Calaminus G, Haas RJ, Schmidt P, Harms D
Ann Oncol 2000 Mar;11(3):263-71. doi: 10.1023/a:1008360523160. PMID: 10811491

Clinical prediction guides

Zhan MJ, Fan F, Qiu LR, Peng Z, Zhang K, Deng ZH
Leg Med (Tokyo) 2018 Sep;34:21-26. Epub 2018 Jul 26 doi: 10.1016/j.legalmed.2018.07.003. PMID: 30098582
Maier GS, Kolbow K, Lazovic D, Horas K, Roth KE, Seeger JB, Maus U
Arch Gerontol Geriatr 2016 Nov-Dec;67:80-5. Epub 2016 Jul 15 doi: 10.1016/j.archger.2016.06.020. PMID: 27448040
Miyakoshi N, Kobayashi A, Hongo M, Shimada Y
Spine J 2015 Jun 1;15(6):e35-8. Epub 2013 Oct 4 doi: 10.1016/j.spinee.2013.08.055. PMID: 24268667
Partridge EA, Canning D, Long C, Peranteau WH, Hedrick HL, Adzick NS, Flake AW
J Pediatr Surg 2014 Jan;49(1):139-42; discussion 142-3. Epub 2013 Oct 8 doi: 10.1016/j.jpedsurg.2013.09.042. PMID: 24439598
Paradies G, Zullino F, Orofino A, Leggio S
Ann Ital Chir 2013 May-Jun;84(3):333-46. PMID: 23160138

Recent systematic reviews

Leggett LE, Soril LJ, Lorenzetti DL, Noseworthy T, Steadman R, Tiwana S, Clement F
Pain Res Manag 2014 Sep-Oct;19(5):e146-53. Epub 2014 Jul 28 doi: 10.1155/2014/834369. PMID: 25068973Free PMC Article

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