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Acromesomelic dysplasia

MedGen UID:
1710812
Concept ID:
C5235036
Disease or Syndrome
Synonyms: Acromesomelic Dwarfism; St Helena dysplasia; St. Helena Dysplasia
SNOMED CT: Acromesomelic dysplasia syndrome (279082008); Acromesomelic dysplasia group (279082008); Acromesomelic dwarfism (279082008); Acromesomelic dysplasia (279082008)
 
Monarch Initiative: MONDO:0019696
OMIM® Phenotypic series: PS602875
Orphanet: ORPHA93437

Definition

A group of extremely rare, inherited, progressive skeletal conditions that result in a particular form of short stature, called short-limb dwarfism. The short stature is the result of unusually short forearms and forelegs (mesomelia) and abnormal shortening of the bones in the hands and feet (acromelia). At birth, the hands and feet may appear abnormally short and broad. Over time, the apparent disproportion becomes even more obvious, especially during the first years of life. Additional features may include: limited extension of the elbows and arms; progressive abnormal curvature of the spine; an enlarged head; and a slightly flattened midface. Acromesomelic dysplasia is inherited as an autosomal recessive trait. There are different types of acromesomelic dysplasia, which are distinguished by their genetic cause. To read more about the different types, click on the links below. Acromesomelic dysplasia, Maroteaux type Acromesomelic dysplasia, Hunter-Thompson type Acromesomelic dysplasia, Grebe type [from MONDO]

Term Hierarchy

Professional guidelines

PubMed

Nayır Büyükşahin H, Emiralioglu N, Simşek Kiper PÖ, Sunman B, Güzelkaş I, Alboğa D, Akgül Erdal M, Boduroglu K, Utine GE, Yalcın E, Doğru D, Kiper N, Ozcelik U
J Sleep Res 2023 Oct;32(5):e13914. Epub 2023 May 1 doi: 10.1111/jsr.13914. PMID: 37128177

Recent clinical studies

Etiology

Mollaoğlu E, Uludağ Alkaya D, Yıldız CA, Kasap B, Tüysüz B
Clin Genet 2023 May;103(5):574-579. Epub 2022 Dec 20 doi: 10.1111/cge.14277. PMID: 36504352
Zhu J, Meng R, Zhao H, Cai L, Wen X, Zeng W, Luo Y, Qi H
DNA Cell Biol 2022 Nov;41(11):996-1006. Epub 2022 Nov 2 doi: 10.1089/dna.2022.0453. PMID: 36322898
Handa A, Voss U, Hammarsjö A, Grigelioniene G, Nishimura G
Jpn J Radiol 2020 Mar;38(3):193-206. Epub 2020 Jan 21 doi: 10.1007/s11604-020-00920-w. PMID: 31965514
Ullah A, Umair M, Muhammad D, Bilal M, Lee K, Leal SM, Ahmad W
Ann Hum Genet 2018 May;82(3):129-134. Epub 2018 Jan 10 doi: 10.1111/ahg.12233. PMID: 29322508Free PMC Article
Potter LR
Pharmacol Ther 2011 Apr;130(1):71-82. Epub 2010 Dec 24 doi: 10.1016/j.pharmthera.2010.12.005. PMID: 21185863Free PMC Article

Diagnosis

Lhousni S, Charif M, Derouich Y, Elidrissi Errahhali M, Elidrissi Errahhali M, Ouarzane M, Lenaers G, Boulouiz R, Belahcen M, Bellaoui M
Bone 2023 Oct;175:116860. Epub 2023 Jul 29 doi: 10.1016/j.bone.2023.116860. PMID: 37524292
Zhu J, Meng R, Zhao H, Cai L, Wen X, Zeng W, Luo Y, Qi H
DNA Cell Biol 2022 Nov;41(11):996-1006. Epub 2022 Nov 2 doi: 10.1089/dna.2022.0453. PMID: 36322898
Yuan K, Chen J, Chen Q, Chen H, Zhu J, Fang Y, Wang C
J Pediatr Endocrinol Metab 2022 Feb 23;35(2):185-190. Epub 2021 Sep 27 doi: 10.1515/jpem-2021-0332. PMID: 34565054
Simsek-Kiper PO, Urel-Demir G, Taskiran EZ, Arslan UE, Nur B, Mihci E, Haliloglu M, Alanay Y, Utine GE, Boduroglu K
J Hum Genet 2021 Jun;66(6):585-596. Epub 2020 Dec 7 doi: 10.1038/s10038-020-00871-0. PMID: 33288834
Langer LO, Garrett RT
Radiology 1980 Nov;137(2):349-55. doi: 10.1148/radiology.137.2.7433666. PMID: 7433666

Therapy

Yuan K, Chen J, Chen Q, Chen H, Zhu J, Fang Y, Wang C
J Pediatr Endocrinol Metab 2022 Feb 23;35(2):185-190. Epub 2021 Sep 27 doi: 10.1515/jpem-2021-0332. PMID: 34565054
Arya VB, Raj M, Younes M, Chapman S, Irving M, Kapoor RR, Buchanan CR
Horm Res Paediatr 2020;93(5):335-342. Epub 2020 Nov 25 doi: 10.1159/000511874. PMID: 33238275
Geister KA, Brinkmeier ML, Hsieh M, Faust SM, Karolyi IJ, Perosky JE, Kozloff KM, Conti M, Camper SA
Hum Mol Genet 2013 Jan 15;22(2):345-57. Epub 2012 Oct 12 doi: 10.1093/hmg/dds432. PMID: 23065701Free PMC Article
Potter LR, Abbey-Hosch S, Dickey DM
Endocr Rev 2006 Feb;27(1):47-72. Epub 2005 Nov 16 doi: 10.1210/er.2005-0014. PMID: 16291870

Prognosis

Lhousni S, Charif M, Derouich Y, Elidrissi Errahhali M, Elidrissi Errahhali M, Ouarzane M, Lenaers G, Boulouiz R, Belahcen M, Bellaoui M
Bone 2023 Oct;175:116860. Epub 2023 Jul 29 doi: 10.1016/j.bone.2023.116860. PMID: 37524292
Nayır Büyükşahin H, Emiralioglu N, Simşek Kiper PÖ, Sunman B, Güzelkaş I, Alboğa D, Akgül Erdal M, Boduroglu K, Utine GE, Yalcın E, Doğru D, Kiper N, Ozcelik U
J Sleep Res 2023 Oct;32(5):e13914. Epub 2023 May 1 doi: 10.1111/jsr.13914. PMID: 37128177
Kılıç E, Çavdarlı B, Büyükyılmaz G, Kılıç M
J Pediatr Endocrinol Metab 2021 Sep 27;34(9):1115-1121. Epub 2021 Jun 24 doi: 10.1515/jpem-2021-0055. PMID: 34162036
Wang W, Song MH, Miura K, Fujiwara M, Nawa N, Ohata Y, Kitaoka T, Kubota T, Namba N, Jin DK, Kim OH, Ozono K, Cho TJ
Am J Med Genet A 2016 Feb;170A(2):426-434. Epub 2015 Nov 14 doi: 10.1002/ajmg.a.37463. PMID: 26567084
Minty IL, Hall CM
Br J Radiol 1993 Nov;66(791):1061-4. doi: 10.1259/0007-1285-66-791-1061. PMID: 8281387

Clinical prediction guides

Lhousni S, Charif M, Derouich Y, Elidrissi Errahhali M, Elidrissi Errahhali M, Ouarzane M, Lenaers G, Boulouiz R, Belahcen M, Bellaoui M
Bone 2023 Oct;175:116860. Epub 2023 Jul 29 doi: 10.1016/j.bone.2023.116860. PMID: 37524292
Nayır Büyükşahin H, Emiralioglu N, Simşek Kiper PÖ, Sunman B, Güzelkaş I, Alboğa D, Akgül Erdal M, Boduroglu K, Utine GE, Yalcın E, Doğru D, Kiper N, Ozcelik U
J Sleep Res 2023 Oct;32(5):e13914. Epub 2023 May 1 doi: 10.1111/jsr.13914. PMID: 37128177
Li Q, Fan X, Lu W, Sun C, Pei Z, Zhang M, Ni J, Wu J, Yu FX, Luo F
Cells 2022 Apr 8;11(8) doi: 10.3390/cells11081265. PMID: 35455946Free PMC Article
Hanley PC, Kanwar HS, Martineau C, Levine MA
J Clin Endocrinol Metab 2020 Oct 1;105(10):3190-202. doi: 10.1210/clinem/dgaa491. PMID: 32720985Free PMC Article
Ullah A, Umair M, Muhammad D, Bilal M, Lee K, Leal SM, Ahmad W
Ann Hum Genet 2018 May;82(3):129-134. Epub 2018 Jan 10 doi: 10.1111/ahg.12233. PMID: 29322508Free PMC Article

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