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Acromelic dysplasia

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

Professional guidelines

PubMed

Geleophysic and acromicric dysplasias: natural history, genotype-phenotype correlations, and management guidelines from 38 cases.
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

Acromelic dysplasias: how rare musculoskeletal disorders reveal biological functions of extracellular matrix proteins.
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
A report of three families with FBN1-related acromelic dysplasias and review of literature for genotype-phenotype correlation in geleophysic dysplasia.
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
Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.
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
From tall to short: the role of TGFβ signaling in growth and its disorders.
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
Genetic and molecular aspects of acromelic dysplasia.
Le Goff C, Cormier-Daire V
Pediatr Endocrinol Rev 2009 Mar;6(3):418-23. PMID: 19396027

Diagnosis

A chinese boy with geleophysic dysplasia caused by compound heterozygous mutations in ADAMTSL2.
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
Rapidly progressive mitral valve stenosis in patients with acromelic dysplasia.
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
Three novel mutations of the FBN1 gene in Chinese children with acromelic dysplasia.
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
Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome.
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
Genetic and molecular aspects of acromelic dysplasia.
Le Goff C, Cormier-Daire V
Pediatr Endocrinol Rev 2009 Mar;6(3):418-23. PMID: 19396027

Therapy

A chinese boy with geleophysic dysplasia caused by compound heterozygous mutations in ADAMTSL2.
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

Geleophysic and acromicric dysplasias: natural history, genotype-phenotype correlations, and management guidelines from 38 cases.
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
Novel mutations in geleophysic dysplasia type 1.
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

Limb- and tendon-specific Adamtsl2 deletion identifies a role for ADAMTSL2 in tendon growth in a mouse model for geleophysic dysplasia.
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
Adamts10 inactivation in mice leads to persistence of ocular microfibrils subsequent to reduced fibrillin-2 cleavage.
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
A chinese boy with geleophysic dysplasia caused by compound heterozygous mutations in ADAMTSL2.
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
From tall to short: the role of TGFβ signaling in growth and its disorders.
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

Separation in genetic pathogenesis of mutations in FBN1-TB5 region between autosomal dominant acromelic dysplasia and Marfan syndrome.
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

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