U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Caudal appendage-deafness syndrome

MedGen UID:
419843
•Concept ID:
C2931593
•
Disease or Syndrome
Synonyms: Caudal appendage, short terminal phalanges, deafness, cryptorchidism and mental retardation; Lynch Lee Murday syndrome
SNOMED CT: Caudal appendage deafness syndrome (726621009); Lynch Lee Murday syndrome (726621009)
 
Monarch Initiative: MONDO:0015233
Orphanet: ORPHA1123

Definition

Syndrome with characteristics of caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCaudal appendage-deafness syndrome

Professional guidelines

PubMed

Pediatric regional anesthesia and acute pain management: State of the art.
Barnett NR, Hagen JG, Kattail D
Best Pract Res Clin Anaesthesiol 2024 Jun;38(2):135-144. Epub 2024 May 14 doi: 10.1016/j.bpa.2024.05.003. PMID: 39445559
Epidural Interventions in the Management of Chronic Spinal Pain: American Society of Interventional Pain Physicians (ASIPP) Comprehensive Evidence-Based Guidelines.
Manchikanti L, Knezevic NN, Navani A, Christo PJ, Limerick G, Calodney AK, Grider J, Harned ME, Cintron L, Gharibo CG, Shah S, Nampiaparampil DE, Candido KD, Soin A, Kaye AD, Kosanovic R, Magee TR, Beall DP, Atluri S, Gupta M, Helm Ii S, Wargo BW, Diwan S, Aydin SM, Boswell MV, Haney BW, Albers SL, Latchaw R, Abd-Elsayed A, Conn A, Hansen H, Simopoulos TT, Swicegood JR, Bryce DA, Singh V, Abdi S, Bakshi S, Buenaventura RM, Cabaret JA, Jameson J, Jha S, Kaye AM, Pasupuleti R, Rajput K, Sanapati MR, Sehgal N, Trescot AM, Racz GB, Gupta S, Sharma ML, Grami V, Parr AT, Knezevic E, Datta S, Patel KG, Tracy DH, Cordner HJ, Snook LT, Benyamin RM, Hirsch JA
Pain Physician 2021 Jan;24(S1):S27-S208. PMID: 33492918
An update of comprehensive evidence-based guidelines for interventional techniques in chronic spinal pain. Part II: guidance and recommendations.
Manchikanti L, Abdi S, Atluri S, Benyamin RM, Boswell MV, Buenaventura RM, Bryce DA, Burks PA, Caraway DL, Calodney AK, Cash KA, Christo PJ, Cohen SP, Colson J, Conn A, Cordner H, Coubarous S, Datta S, Deer TR, Diwan S, Falco FJ, Fellows B, Geffert S, Grider JS, Gupta S, Hameed H, Hameed M, Hansen H, Helm S 2nd, Janata JW, Justiz R, Kaye AD, Lee M, Manchikanti KN, McManus CD, Onyewu O, Parr AT, Patel VB, Racz GB, Sehgal N, Sharma ML, Simopoulos TT, Singh V, Smith HS, Snook LT, Swicegood JR, Vallejo R, Ward SP, Wargo BW, Zhu J, Hirsch JA
Pain Physician 2013 Apr;16(2 Suppl):S49-283. PMID: 23615883

Recent clinical studies

Etiology

Refining the Neuroimaging Definition of the Dandy-Walker Phenotype.
Whitehead MT, Barkovich MJ, Sidpra J, Alves CA, Mirsky DM, Öztekin Ö, Bhattacharya D, Lucato LT, Sudhakar S, Taranath A, Andronikou S, Prabhu SP, Aldinger KA, Haldipur P, Millen KJ, Barkovich AJ, Boltshauser E, Dobyns WB, Mankad K
AJNR Am J Neuroradiol 2022 Oct;43(10):1488-1493. Epub 2022 Sep 22 doi: 10.3174/ajnr.A7659. PMID: 36137655Free PMC Article
Distribution patterns of tau pathology in progressive supranuclear palsy.
Kovacs GG, Lukic MJ, Irwin DJ, Arzberger T, Respondek G, Lee EB, Coughlin D, Giese A, Grossman M, Kurz C, McMillan CT, Gelpi E, Compta Y, van Swieten JC, Laat LD, Troakes C, Al-Sarraj S, Robinson JL, Roeber S, Xie SX, Lee VM, Trojanowski JQ, Höglinger GU
Acta Neuropathol 2020 Aug;140(2):99-119. Epub 2020 May 7 doi: 10.1007/s00401-020-02158-2. PMID: 32383020Free PMC Article
Epidural corticosteroid injections for lumbosacral radicular pain.
Oliveira CB, Maher CG, Ferreira ML, Hancock MJ, Oliveira VC, McLachlan AJ, Koes BW, Ferreira PH, Cohen SP, Pinto RZ
Cochrane Database Syst Rev 2020 Apr 9;4(4):CD013577. doi: 10.1002/14651858.CD013577. PMID: 32271952Free PMC Article
Gene methylation in gastric cancer.
Qu Y, Dang S, Hou P
Clin Chim Acta 2013 Sep 23;424:53-65. Epub 2013 May 10 doi: 10.1016/j.cca.2013.05.002. PMID: 23669186
Exaggerated startle reactions.
Dreissen YE, Bakker MJ, Koelman JH, Tijssen MA
Clin Neurophysiol 2012 Jan;123(1):34-44. Epub 2011 Oct 26 doi: 10.1016/j.clinph.2011.09.022. PMID: 22033030

Diagnosis

Diabetic Embryopathies.
Gajagowni S, Nair P, Bapat AC, Vachharajani AJ
Neoreviews 2022 Oct 1;23(10):e677-e688. doi: 10.1542/neo.23-10-e677. PMID: 36180736
Refining the Neuroimaging Definition of the Dandy-Walker Phenotype.
Whitehead MT, Barkovich MJ, Sidpra J, Alves CA, Mirsky DM, Öztekin Ö, Bhattacharya D, Lucato LT, Sudhakar S, Taranath A, Andronikou S, Prabhu SP, Aldinger KA, Haldipur P, Millen KJ, Barkovich AJ, Boltshauser E, Dobyns WB, Mankad K
AJNR Am J Neuroradiol 2022 Oct;43(10):1488-1493. Epub 2022 Sep 22 doi: 10.3174/ajnr.A7659. PMID: 36137655Free PMC Article
Epidural corticosteroid injections for lumbosacral radicular pain.
Oliveira CB, Maher CG, Ferreira ML, Hancock MJ, Oliveira VC, McLachlan AJ, Koes BW, Ferreira PH, Cohen SP, Pinto RZ
Cochrane Database Syst Rev 2020 Apr 9;4(4):CD013577. doi: 10.1002/14651858.CD013577. PMID: 32271952Free PMC Article
Primary Hyperparathyroidism.
Masi L
Front Horm Res 2019;51:1-12. Epub 2018 Nov 19 doi: 10.1159/000491034. PMID: 30641515
Gene methylation in gastric cancer.
Qu Y, Dang S, Hou P
Clin Chim Acta 2013 Sep 23;424:53-65. Epub 2013 May 10 doi: 10.1016/j.cca.2013.05.002. PMID: 23669186

Therapy

Congenital musculoskeletal anomalies - key radiographic findings.
Gill KG
Pediatr Radiol 2022 Apr;52(4):777-785. Epub 2021 Nov 3 doi: 10.1007/s00247-021-05200-x. PMID: 34731287
BMSC-Derived Exosomes Ameliorate LPS-Induced Acute Lung Injury by miR-384-5p-Controlled Alveolar Macrophage Autophagy.
Liu X, Gao C, Wang Y, Niu L, Jiang S, Pan S
Oxid Med Cell Longev 2021;2021:9973457. Epub 2021 Jun 13 doi: 10.1155/2021/9973457. PMID: 34234888Free PMC Article
Epidural Interventions in the Management of Chronic Spinal Pain: American Society of Interventional Pain Physicians (ASIPP) Comprehensive Evidence-Based Guidelines.
Manchikanti L, Knezevic NN, Navani A, Christo PJ, Limerick G, Calodney AK, Grider J, Harned ME, Cintron L, Gharibo CG, Shah S, Nampiaparampil DE, Candido KD, Soin A, Kaye AD, Kosanovic R, Magee TR, Beall DP, Atluri S, Gupta M, Helm Ii S, Wargo BW, Diwan S, Aydin SM, Boswell MV, Haney BW, Albers SL, Latchaw R, Abd-Elsayed A, Conn A, Hansen H, Simopoulos TT, Swicegood JR, Bryce DA, Singh V, Abdi S, Bakshi S, Buenaventura RM, Cabaret JA, Jameson J, Jha S, Kaye AM, Pasupuleti R, Rajput K, Sanapati MR, Sehgal N, Trescot AM, Racz GB, Gupta S, Sharma ML, Grami V, Parr AT, Knezevic E, Datta S, Patel KG, Tracy DH, Cordner HJ, Snook LT, Benyamin RM, Hirsch JA
Pain Physician 2021 Jan;24(S1):S27-S208. PMID: 33492918
Epidural corticosteroid injections for lumbosacral radicular pain.
Oliveira CB, Maher CG, Ferreira ML, Hancock MJ, Oliveira VC, McLachlan AJ, Koes BW, Ferreira PH, Cohen SP, Pinto RZ
Cochrane Database Syst Rev 2020 Apr 9;4(4):CD013577. doi: 10.1002/14651858.CD013577. PMID: 32271952Free PMC Article
Epidural adhesiolysis: an evidence-based review.
Jamison DE, Hsu E, Cohen SP
J Neurosurg Sci 2014 Jun;58(2):65-76. PMID: 24819483

Prognosis

Clinical and radiological evaluation of caudal regression syndrome.
Krishnan V, Jaganathan S, Jayappa S, Glasier C, Choudhary A, Ramakrishnaiah R, Murphy J
Pediatr Radiol 2024 Aug;54(9):1451-1461. Epub 2024 May 16 doi: 10.1007/s00247-024-05945-1. PMID: 38750326
Human genetics and molecular genomics of Chiari malformation type 1.
Mekbib KY, Muñoz W, Allington G, McGee S, Mehta NH, Shofi JP, Fortes C, Le HT, Nelson-Williams C, Nanda P, Dennis E, Kundishora AJ, Khanna A, Smith H, Ocken J, Greenberg ABW, Wu R, Moreno-De-Luca A, DeSpenza T Jr, Zhao S, Marlier A, Jin SC, Alper SL, Butler WE, Kahle KT
Trends Mol Med 2023 Dec;29(12):1059-1075. Epub 2023 Oct 4 doi: 10.1016/j.molmed.2023.08.013. PMID: 37802664
Caudal duplication syndrome: 10-year experiences with a comprehensive literature review.
Wang K, Yang L, Peng C, Pang W, Wang Z, Zhang D, Wu D, Chen Y
Pediatr Surg Int 2022 Sep;38(9):1283-1289. Epub 2022 Jul 3 doi: 10.1007/s00383-022-05159-2. PMID: 35780394
Caudal Duplication Syndrome.
Meena S, Batra P
Indian Pediatr 2015 Dec;52(12):1099. PMID: 26713997
Spinal lipomas.
Blount JP, Elton S
Neurosurg Focus 2001 Jan 15;10(1):e3. doi: 10.3171/foc.2001.10.1.4. PMID: 16749755

Clinical prediction guides

Clinico- Radiological Profile and Outcome of Isolated Paramedian Hemipontine Infarcts.
Basu E, Javali M, Haskar K, Gogineni S, R P, Mehta A, T AP
Acta Neurol Taiwan 2024 Jun 30;33(2):60-67. PMID: 37848229
Human genetics and molecular genomics of Chiari malformation type 1.
Mekbib KY, Muñoz W, Allington G, McGee S, Mehta NH, Shofi JP, Fortes C, Le HT, Nelson-Williams C, Nanda P, Dennis E, Kundishora AJ, Khanna A, Smith H, Ocken J, Greenberg ABW, Wu R, Moreno-De-Luca A, DeSpenza T Jr, Zhao S, Marlier A, Jin SC, Alper SL, Butler WE, Kahle KT
Trends Mol Med 2023 Dec;29(12):1059-1075. Epub 2023 Oct 4 doi: 10.1016/j.molmed.2023.08.013. PMID: 37802664
COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis.
Rebello D, Wohler E, Erfani V, Li G, Aguilera AN, Santiago-Cornier A, Zhao S, Hwang SW, Steiner RD, Zhang TJ, Gurnett CA, Raggio C, Wu N, Sobreira N, Giampietro PF, Ciruna B
Hum Mol Genet 2023 Sep 16;32(19):2913-2928. doi: 10.1093/hmg/ddad117. PMID: 37462524Free PMC Article
BMSC-Derived Exosomes Ameliorate LPS-Induced Acute Lung Injury by miR-384-5p-Controlled Alveolar Macrophage Autophagy.
Liu X, Gao C, Wang Y, Niu L, Jiang S, Pan S
Oxid Med Cell Longev 2021;2021:9973457. Epub 2021 Jun 13 doi: 10.1155/2021/9973457. PMID: 34234888Free PMC Article
Epidural Interventions in the Management of Chronic Spinal Pain: American Society of Interventional Pain Physicians (ASIPP) Comprehensive Evidence-Based Guidelines.
Manchikanti L, Knezevic NN, Navani A, Christo PJ, Limerick G, Calodney AK, Grider J, Harned ME, Cintron L, Gharibo CG, Shah S, Nampiaparampil DE, Candido KD, Soin A, Kaye AD, Kosanovic R, Magee TR, Beall DP, Atluri S, Gupta M, Helm Ii S, Wargo BW, Diwan S, Aydin SM, Boswell MV, Haney BW, Albers SL, Latchaw R, Abd-Elsayed A, Conn A, Hansen H, Simopoulos TT, Swicegood JR, Bryce DA, Singh V, Abdi S, Bakshi S, Buenaventura RM, Cabaret JA, Jameson J, Jha S, Kaye AM, Pasupuleti R, Rajput K, Sanapati MR, Sehgal N, Trescot AM, Racz GB, Gupta S, Sharma ML, Grami V, Parr AT, Knezevic E, Datta S, Patel KG, Tracy DH, Cordner HJ, Snook LT, Benyamin RM, Hirsch JA
Pain Physician 2021 Jan;24(S1):S27-S208. PMID: 33492918

Recent systematic reviews

Caudal Duplication Syndrome Systematic Review-A Need for Better Multidisciplinary Surgical Approach and Follow-Up.
Radu-Iulian S, Adelaida A, Dan-Alexandru I, Monica I, Dragos S, Florentina TL, Cătălin C
Medicina (Kaunas) 2020 Nov 27;56(12) doi: 10.3390/medicina56120650. PMID: 33260808Free PMC Article
Epidural corticosteroid injections for lumbosacral radicular pain.
Oliveira CB, Maher CG, Ferreira ML, Hancock MJ, Oliveira VC, McLachlan AJ, Koes BW, Ferreira PH, Cohen SP, Pinto RZ
Cochrane Database Syst Rev 2020 Apr 9;4(4):CD013577. doi: 10.1002/14651858.CD013577. PMID: 32271952Free PMC Article
Surgical Treatment of Tethered Cord Syndrome in Adults: A Systematic Review and Meta-Analysis.
O'Connor KP, Smitherman AD, Milton CK, Palejwala AH, Lu VM, Johnston SE, Homburg H, Zhao D, Martin MD
World Neurosurg 2020 May;137:e221-e241. Epub 2020 Jan 28 doi: 10.1016/j.wneu.2020.01.131. PMID: 32001403
Efficacy of Epidural Injections in Managing Chronic Spinal Pain: A Best Evidence Synthesis.
Kaye AD, Manchikanti L, Abdi S, Atluri S, Bakshi S, Benyamin R, Boswell MV, Buenaventura R, Candido KD, Cordner HJ, Datta S, Doulatram G, Gharibo CG, Grami V, Gupta S, Jha S, Kaplan ED, Malla Y, Mann DP, Nampiaparampil DE, Racz G, Raj P, Rana MV, Sharma ML, Singh V, Soin A, Staats PS, Vallejo R, Wargo BW, Hirsch JA
Pain Physician 2015 Nov;18(6):E939-1004. PMID: 26606031
Effectiveness of therapeutic lumbar transforaminal epidural steroid injections in managing lumbar spinal pain.
Manchikanti L, Buenaventura RM, Manchikanti KN, Ruan X, Gupta S, Smith HS, Christo PJ, Ward SP
Pain Physician 2012 May-Jun;15(3):E199-245. PMID: 22622912

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • MeSH
      Related Medical Subject Headings
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...