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Distal shortening of limbs

MedGen UID:
327072
Concept ID:
C1840307
Finding
Synonym: Short outer part of limbs
 
HPO: HP:0006402

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDistal shortening of limbs

Conditions with this feature

Pallister-Hall syndrome
MedGen UID:
120514
Concept ID:
C0265220
Disease or Syndrome
GLI3-related Pallister-Hall syndrome (GLI3-PHS) is characterized by a spectrum of anomalies ranging from polydactyly, asymptomatic bifid epiglottis, and hypothalamic hamartoma at the mild end to laryngotracheal cleft with neonatal lethality at the severe end. Individuals with mild GLI3-PHS may be incorrectly diagnosed as having isolated postaxial polydactyly type A. Individuals with GLI3-PHS can have pituitary insufficiency and may die as neonates from undiagnosed and untreated adrenal insufficiency.
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
MedGen UID:
477107
Concept ID:
C3275476
Disease or Syndrome
X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males.

Professional guidelines

PubMed

Li C, Zhan Y, Wang Z, Gao Y, Ye K, Lu X, Qiu P, Yao C
Med Eng Phys 2023 May;115:103983. Epub 2023 Apr 20 doi: 10.1016/j.medengphy.2023.103983. PMID: 37120173
Nossov SB, Hollin IL, Phillips J, Franklin CC
J Am Acad Orthop Surg 2022 Jul 1;30(13):e899-e910. Epub 2022 Apr 28 doi: 10.5435/JAAOS-D-21-01186. PMID: 35486897
Wukich DK, Raspovic KM, Hobizal KB, Sadoskas D
Diabetes Metab Res Rev 2016 Jan;32 Suppl 1:292-6. doi: 10.1002/dmrr.2748. PMID: 26452590

Recent clinical studies

Etiology

Neunteufel E, Krenn S, Chraim M, Amann P, Greiner F, Kranzl A, Bock P
Foot Ankle Int 2022 Feb;43(2):153-163. Epub 2021 Aug 17 doi: 10.1177/10711007211034849. PMID: 34404241
Yuan Q, Zhen Y, Guo Z, Zhang F, Fang J, Zhu Z, Zhu L, Shen X, Yin C, Liu Y, Yao F, Wu L, Wang X
J Orthop Surg Res 2021 Mar 27;16(1):224. doi: 10.1186/s13018-021-02359-9. PMID: 33773575Free PMC Article
Lazarus DE, Farnsworth CL, Jeffords ME, Marino N, Hallare J, Edmonds EW
J Pediatr Orthop 2018 Feb;38(2):e97-e103. doi: 10.1097/BPO.0000000000001106. PMID: 29189535
Rodriguez-Merchan EC, Gomez-Castresana F
Clin Orthop Relat Res 2004 Feb;(419):13-20. doi: 10.1097/00003086-200402000-00004. PMID: 15021126
Kotz R
Semin Surg Oncol 1997 Jan-Feb;13(1):34-40. doi: 10.1002/(sici)1098-2388(199701/02)13:1<34::aid-ssu6>3.0.co;2-5. PMID: 9025180

Diagnosis

Schmitt S, Eisa A, Radosavljevic J, van Schoonhoven J
Arch Orthop Trauma Surg 2023 May;143(5):2781-2787. Epub 2022 Nov 8 doi: 10.1007/s00402-022-04684-y. PMID: 36346445
Clippinger BB, Plucknette BF, Soldado F, Turvey BR, Barrera-Ochoa S, Kozin SH, Zlotolow DA
J Hand Surg Am 2022 Feb;47(2):189.e1-189.e9. Epub 2021 Jun 8 doi: 10.1016/j.jhsa.2021.04.009. PMID: 34112543
Trask DJ, Ledoux WR, Whittaker EC, Roush GC, Sangeorzan BJ
J Orthop Res 2014 Mar;32(3):385-93. Epub 2013 Nov 14 doi: 10.1002/jor.22524. PMID: 24243763
Dubey A, Fajardo M, Green S, Lee SK
J Hand Surg Eur Vol 2010 Mar;35(3):174-81. Epub 2009 Dec 9 doi: 10.1177/1753193409346070. PMID: 20007414
Kotz R
Semin Surg Oncol 1997 Jan-Feb;13(1):34-40. doi: 10.1002/(sici)1098-2388(199701/02)13:1<34::aid-ssu6>3.0.co;2-5. PMID: 9025180

Therapy

Yuan Q, Zhen Y, Guo Z, Zhang F, Fang J, Zhu Z, Zhu L, Shen X, Yin C, Liu Y, Yao F, Wu L, Wang X
J Orthop Surg Res 2021 Mar 27;16(1):224. doi: 10.1186/s13018-021-02359-9. PMID: 33773575Free PMC Article
Aurshina A, Hingorani A, Blumberg S, Alsheekh A, Marks N, Hingorani A, Iadagarova E, Ascher E
J Vasc Surg Venous Lymphat Disord 2017 Nov;5(6):824-828. Epub 2017 Jun 27 doi: 10.1016/j.jvsv.2017.04.010. PMID: 29037353
Miller AJ, Rivlin M, Kirkpatrick W, Abboudi J, Jones C
Am J Orthop (Belle Mead NJ) 2015 Sep;44(9):E331-9. PMID: 26372760
Rodriguez-Merchan EC, Gomez-Castresana F
Clin Orthop Relat Res 2004 Feb;(419):13-20. doi: 10.1097/00003086-200402000-00004. PMID: 15021126
Vanggaard L, Eyolfson D, Xu X, Weseen G, Giesbrecht GG
Aviat Space Environ Med 1999 Nov;70(11):1081-8. PMID: 10608605

Prognosis

Goudie ST, Broll R, Warwick C, Dixon D, Ring D, McQueen M
J Hand Surg Am 2022 Feb;47(2):190.e1-190.e10. Epub 2021 Jun 8 doi: 10.1016/j.jhsa.2021.04.012. PMID: 34112544
Marx C, Schaser KD, Rammelt S
Z Orthop Unfall 2021 Jun;159(3):323-331. Epub 2020 Feb 10 doi: 10.1055/a-1079-6476. PMID: 32040967
Biz C, Corradin M, Kuete Kanah WT, Dalmau-Pastor M, Zornetta A, Volpin A, Ruggieri P
Biomed Res Int 2018;2018:1947024. Epub 2018 Nov 15 doi: 10.1155/2018/1947024. PMID: 30581846Free PMC Article
Lazarus DE, Farnsworth CL, Jeffords ME, Marino N, Hallare J, Edmonds EW
J Pediatr Orthop 2018 Feb;38(2):e97-e103. doi: 10.1097/BPO.0000000000001106. PMID: 29189535
Kotz R
Semin Surg Oncol 1997 Jan-Feb;13(1):34-40. doi: 10.1002/(sici)1098-2388(199701/02)13:1<34::aid-ssu6>3.0.co;2-5. PMID: 9025180

Clinical prediction guides

Schmitt S, Eisa A, Radosavljevic J, van Schoonhoven J
Arch Orthop Trauma Surg 2023 May;143(5):2781-2787. Epub 2022 Nov 8 doi: 10.1007/s00402-022-04684-y. PMID: 36346445
Neunteufel E, Krenn S, Chraim M, Amann P, Greiner F, Kranzl A, Bock P
Foot Ankle Int 2022 Feb;43(2):153-163. Epub 2021 Aug 17 doi: 10.1177/10711007211034849. PMID: 34404241
Losco L, Kaciulyte J, Delia G, Bolletta A, Lo Torto F, Di Taranto G, Ribuffo D, Cigna E
J Invest Surg 2021 Jun;34(6):595-600. Epub 2019 Oct 7 doi: 10.1080/08941939.2019.1672840. PMID: 31590590
Wada A, Nakamura T, Urano N, Kubota H, Oketani Y, Taketa M, Fujii T
J Pediatr Orthop B 2015 Mar;24(2):147-53. doi: 10.1097/BPB.0000000000000149. PMID: 25622236
Kotz R
Semin Surg Oncol 1997 Jan-Feb;13(1):34-40. doi: 10.1002/(sici)1098-2388(199701/02)13:1<34::aid-ssu6>3.0.co;2-5. PMID: 9025180

Recent systematic reviews

Galán-Olleros M, Miranda-Gorozarri C, Rey-Cañas R, Alonso-Hernández J, Azorín-Cuadrillero D, Palazón-Quevedo Á
JBJS Case Connect 2024 Jan 1;14(1) Epub 2024 Mar 7 doi: 10.2106/JBJS.CC.23.00496. PMID: 38452160
Peymani A, Johnson AR, Dowlatshahi AS, Dobbe JGG, Lin SJ, Upton J, Streekstra GJ, Strackee SD
Hand (N Y) 2019 Nov;14(6):725-734. Epub 2018 Aug 13 doi: 10.1177/1558944718793179. PMID: 30102073Free PMC Article
Roukis TS
J Foot Ankle Surg 2010 Jul-Aug;49(4):390-4. Epub 2010 Apr 24 doi: 10.1053/j.jfas.2010.02.023. PMID: 20421174

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