U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Acromelic dysplasia

MedGen UID:
1843369
Concept ID:
C4736195
Disease or Syndrome
Synonym: acromelic dysplasia
 
Monarch Initiative: MONDO:0019695
Orphanet: ORPHA93436

Professional guidelines

PubMed

Marzin P, Thierry B, Dancasius A, Cavau A, Michot C, Rondeau S, Baujat G, Phan G, Bonnière M, Le Bourgeois M, Khraiche D, Pejin Z, Bonnet D, Delacourt C, Cormier-Daire V
Genet Med 2021 Feb;23(2):331-340. Epub 2020 Oct 21 doi: 10.1038/s41436-020-00994-x. PMID: 33082559

Recent clinical studies

Etiology

Stanley S, Balic Z, Hubmacher D
Ann N Y Acad Sci 2021 Apr;1490(1):57-76. Epub 2020 Sep 2 doi: 10.1111/nyas.14465. PMID: 32880985Free PMC Article
Cheng SW, Luk HM, Chu YWY, Tung YL, Kwan EY, Lo IF, Chung BH
Eur J Med Genet 2018 Apr;61(4):219-224. Epub 2017 Nov 27 doi: 10.1016/j.ejmg.2017.11.018. PMID: 29191498
McInerney-Leo AM, Le Goff C, Leo PJ, Kenna TJ, Keith P, Harris JE, Steer R, Bole-Feysot C, Nitschke P, Kielty C, Brown MA, Zankl A, Duncan EL, Cormier-Daire V
J Med Genet 2016 Jul;53(7):457-64. Epub 2016 Apr 11 doi: 10.1136/jmedgenet-2015-103647. PMID: 27068007
Le Goff C, Cormier-Daire V
Am J Med Genet C Semin Med Genet 2012 Aug 15;160C(3):145-53. Epub 2012 Jul 12 doi: 10.1002/ajmg.c.31337. PMID: 22791552
Le Goff C, Cormier-Daire V
Pediatr Endocrinol Rev 2009 Mar;6(3):418-23. PMID: 19396027

Diagnosis

Li D, Dong H, Zheng H, Song J, Li X, Jin Y, Liu Y, Yang Y
Eur J Med Genet 2017 Dec;60(12):685-689. Epub 2017 Sep 14 doi: 10.1016/j.ejmg.2017.09.003. PMID: 28917829
Rama G, Chung WK, Cunniff CM, Krishnan U
Cardiol Young 2017 May;27(4):797-800. Epub 2017 Jan 12 doi: 10.1017/S1047951116002006. PMID: 28077185
Wang Y, Zhang H, Ye J, Han L, Gu X
J Hum Genet 2014 Oct;59(10):563-7. Epub 2014 Aug 21 doi: 10.1038/jhg.2014.73. PMID: 25142510
Cecchi A, Ogawa N, Martinez HR, Carlson A, Fan Y, Penny DJ, Guo DC, Eisenberg S, Safi H, Estrera A, Lewis RA, Meyers D, Milewicz DM
Am J Med Genet A 2013 Sep;161A(9):2305-10. Epub 2013 Jul 29 doi: 10.1002/ajmg.a.36044. PMID: 23897642Free PMC Article
Le Goff C, Cormier-Daire V
Pediatr Endocrinol Rev 2009 Mar;6(3):418-23. PMID: 19396027

Therapy

Li D, Dong H, Zheng H, Song J, Li X, Jin Y, Liu Y, Yang Y
Eur J Med Genet 2017 Dec;60(12):685-689. Epub 2017 Sep 14 doi: 10.1016/j.ejmg.2017.09.003. PMID: 28917829

Prognosis

Marzin P, Thierry B, Dancasius A, Cavau A, Michot C, Rondeau S, Baujat G, Phan G, Bonnière M, Le Bourgeois M, Khraiche D, Pejin Z, Bonnet D, Delacourt C, Cormier-Daire V
Genet Med 2021 Feb;23(2):331-340. Epub 2020 Oct 21 doi: 10.1038/s41436-020-00994-x. PMID: 33082559
Porayette P, Fruitman D, Lauzon JL, Le Goff C, Cormier-Daire V, Sanders SP, Pinto-Rojas A, Perez-Atayde AR
Pediatr Dev Pathol 2014 May-Jun;17(3):209-16. Epub 2013 Nov 19 doi: 10.2350/13-08-1370-CR.1. PMID: 24251637

Clinical prediction guides

Hubmacher D, Taye N, Balic Z, Thacker S, Adams SM, Birk DE, Schweitzer R, Apte SS
Matrix Biol 2019 Sep;82:38-53. Epub 2019 Feb 7 doi: 10.1016/j.matbio.2019.02.001. PMID: 30738849Free PMC Article
Wang LW, Kutz WE, Mead TJ, Beene LC, Singh S, Jenkins MW, Reinhardt DP, Apte SS
Matrix Biol 2019 Apr;77:117-128. Epub 2018 Sep 7 doi: 10.1016/j.matbio.2018.09.004. PMID: 30201140Free PMC Article
Li D, Dong H, Zheng H, Song J, Li X, Jin Y, Liu Y, Yang Y
Eur J Med Genet 2017 Dec;60(12):685-689. Epub 2017 Sep 14 doi: 10.1016/j.ejmg.2017.09.003. PMID: 28917829
Le Goff C, Cormier-Daire V
Am J Med Genet C Semin Med Genet 2012 Aug 15;160C(3):145-53. Epub 2012 Jul 12 doi: 10.1002/ajmg.c.31337. PMID: 22791552

Recent systematic reviews

Sun C, Xu D, Pei Z, Yang L, Qiao Z, Lu W, Luo F, Qiu Z
Birth Defects Res 2020 Dec;112(20):1834-1842. Epub 2020 Oct 8 doi: 10.1002/bdr2.1814. PMID: 33030311

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.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...