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Calf muscle hypoplasia

MedGen UID:
811780
Concept ID:
C3805450
Finding
Synonym: Hypoplastic calf muscles
 
HPO: HP:0008962

Definition

Underdevelopment of the muscuklature of the calf. [from HPO]

Conditions with this feature

Congenital contractural arachnodactyly
MedGen UID:
67391
Concept ID:
C0220668
Congenital Abnormality
Congenital contractural arachnodactyly (CCA) appears to comprise a broad phenotypic spectrum. Classic CCA is characterized by arachnodactyly; flexion contractures of multiple joints including elbows, knees, hips, ankles, and/or fingers; kyphoscoliosis (usually progressive); a marfanoid habitus (a long and slender build, dolichostenomelia, pectus deformity, muscular hypoplasia, highly arched palate); and abnormal "crumpled" ears. At the mildest end, parents who are diagnosed retrospectively upon evaluation of their more severely affected child may show a lean body build, mild arachnodactyly, mild contractures without impairment, and minor ear abnormalities. At the most severe end is "severe CCA with cardiovascular and/or gastrointestinal anomalies," a rare phenotype in infants with pronounced features of CCA (severe crumpling of the ears, arachnodactyly, contractures, congenital scoliosis, and/or hypotonia) and severe cardiovascular and/or gastrointestinal anomalies. Phenotypic expression can vary within and between families.

Professional guidelines

PubMed

Unnikrishnan G, Polavarapu K, Bardhan M, Nashi S, Vengalil S, Preethish-Kumar V, Valasani RK, Huddar A, Nishadham V, Nandeesh BN, Nalini A
J Neuromuscul Dis 2023;10(4):615-626. doi: 10.3233/JND-221618. PMID: 37154180Free PMC Article
Kiss NK, Denehy L, Edbrooke L, Prado CM, Ball D, Siva S, Abbott G, Ugalde A, Fraser SF, Everitt S, Hardcastle N, Wirth A, Daly RM
BMJ Open 2021 Sep 27;11(9):e051665. doi: 10.1136/bmjopen-2021-051665. PMID: 34580100Free PMC Article
Nonnekes J, Benda N, van Duijnhoven H, Lem F, Keijsers N, Louwerens JWK, Pieterse A, Renzenbrink B, Weerdesteyn V, Buurke J, Geurts ACH
JAMA Neurol 2018 Jun 1;75(6):751-758. doi: 10.1001/jamaneurol.2017.5041. PMID: 29482203

Recent clinical studies

Etiology

Haga S, Takeguchi R, Tanaka R, Satake A, Makita Y, Yanagi K, Kaname T, Takahashi S
Brain Dev 2023 Aug;45(7):390-394. Epub 2023 Mar 14 doi: 10.1016/j.braindev.2023.02.008. PMID: 36922284
Kryst Ł, Żegleń M, Woronkowicz A, Kowal M
Am J Hum Biol 2022 May;34(5):e23696. Epub 2021 Nov 2 doi: 10.1002/ajhb.23696. PMID: 34726810
Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, Mowat D, Fitzsimons RB, Corbett AJ, Ryan MM, O'Grady GL, Sandaradura SA, Ghaoui R, Joshi H, Marshall JL, Nolan MA, Kaur S, Punetha J, Töpf A, Harris E, Bakshi M, Genetti CA, Marttila M, Werlauff U, Streichenberger N, Pestronk A, Mazanti I, Pinner JR, Vuillerot C, Grosmann C, Camacho A, Mohassel P, Leach ME, Foley AR, Bharucha-Goebel D, Collins J, Connolly AM, Gilbreath HR, Iannaccone ST, Castro D, Cummings BB, Webster RI, Lazaro L, Vissing J, Coppens S, Deconinck N, Luk HM, Thomas NH, Foulds NC, Illingworth MA, Ellard S, McLean CA, Phadke R, Ravenscroft G, Witting N, Hackman P, Richard I, Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bönnemann CG, MacArthur DG, Granzier H, Davis MR, Laing NG
Ann Neurol 2018 Jun;83(6):1105-1124. doi: 10.1002/ana.25241. PMID: 29691892Free PMC Article
Nonnekes J, Benda N, van Duijnhoven H, Lem F, Keijsers N, Louwerens JWK, Pieterse A, Renzenbrink B, Weerdesteyn V, Buurke J, Geurts ACH
JAMA Neurol 2018 Jun 1;75(6):751-758. doi: 10.1001/jamaneurol.2017.5041. PMID: 29482203
Segiet OA, Brzozowa-Zasada M, Piecuch A, Dudek D, Reichman-Warmusz E, Wojnicz R
Ann Vasc Surg 2015 Feb;29(2):377-84. Epub 2014 Oct 30 doi: 10.1016/j.avsg.2014.10.009. PMID: 25449990

Diagnosis

Haga S, Takeguchi R, Tanaka R, Satake A, Makita Y, Yanagi K, Kaname T, Takahashi S
Brain Dev 2023 Aug;45(7):390-394. Epub 2023 Mar 14 doi: 10.1016/j.braindev.2023.02.008. PMID: 36922284
Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, Mowat D, Fitzsimons RB, Corbett AJ, Ryan MM, O'Grady GL, Sandaradura SA, Ghaoui R, Joshi H, Marshall JL, Nolan MA, Kaur S, Punetha J, Töpf A, Harris E, Bakshi M, Genetti CA, Marttila M, Werlauff U, Streichenberger N, Pestronk A, Mazanti I, Pinner JR, Vuillerot C, Grosmann C, Camacho A, Mohassel P, Leach ME, Foley AR, Bharucha-Goebel D, Collins J, Connolly AM, Gilbreath HR, Iannaccone ST, Castro D, Cummings BB, Webster RI, Lazaro L, Vissing J, Coppens S, Deconinck N, Luk HM, Thomas NH, Foulds NC, Illingworth MA, Ellard S, McLean CA, Phadke R, Ravenscroft G, Witting N, Hackman P, Richard I, Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bönnemann CG, MacArthur DG, Granzier H, Davis MR, Laing NG
Ann Neurol 2018 Jun;83(6):1105-1124. doi: 10.1002/ana.25241. PMID: 29691892Free PMC Article
Nonnekes J, Benda N, van Duijnhoven H, Lem F, Keijsers N, Louwerens JWK, Pieterse A, Renzenbrink B, Weerdesteyn V, Buurke J, Geurts ACH
JAMA Neurol 2018 Jun 1;75(6):751-758. doi: 10.1001/jamaneurol.2017.5041. PMID: 29482203
Kennedy RA, Carroll K, McGinley JL
J Peripher Nerv Syst 2016 Dec;21(4):317-328. doi: 10.1111/jns.12183. PMID: 27513454
Allen RE, Kirby KA
Am Fam Physician 2012 Aug 15;86(4):350-5. PMID: 22963024

Therapy

Bayer ML, Hoegberget-Kalisz M, Svensson RB, Hjortshoej MH, Olesen JL, Nybing JD, Boesen M, Magnusson SP, Kjaer M
Am J Sports Med 2021 Aug;49(10):2783-2794. Epub 2021 Jul 15 doi: 10.1177/03635465211026623. PMID: 34264782
Melenovsky V, Hlavata K, Sedivy P, Dezortova M, Borlaug BA, Petrak J, Kautzner J, Hajek M
Circ Heart Fail 2018 Sep;11(9):e004800. doi: 10.1161/CIRCHEARTFAILURE.117.004800. PMID: 30354361
Nonnekes J, Benda N, van Duijnhoven H, Lem F, Keijsers N, Louwerens JWK, Pieterse A, Renzenbrink B, Weerdesteyn V, Buurke J, Geurts ACH
JAMA Neurol 2018 Jun 1;75(6):751-758. doi: 10.1001/jamaneurol.2017.5041. PMID: 29482203
Andjelkov K, Llull R, Colic M, Atanasijevic TC, Popovic VM, Colic M
Aesthet Surg J 2018 Oct 15;38(11):1200-1209. doi: 10.1093/asj/sjy046. PMID: 29474527
Gärdin A, Movin T, Svensson L, Shalabi A
Skeletal Radiol 2010 May;39(5):435-42. Epub 2009 Sep 23 doi: 10.1007/s00256-009-0798-3. PMID: 19774375

Prognosis

Kiss NK, Denehy L, Edbrooke L, Prado CM, Ball D, Siva S, Abbott G, Ugalde A, Fraser SF, Everitt S, Hardcastle N, Wirth A, Daly RM
BMJ Open 2021 Sep 27;11(9):e051665. doi: 10.1136/bmjopen-2021-051665. PMID: 34580100Free PMC Article
Melenovsky V, Hlavata K, Sedivy P, Dezortova M, Borlaug BA, Petrak J, Kautzner J, Hajek M
Circ Heart Fail 2018 Sep;11(9):e004800. doi: 10.1161/CIRCHEARTFAILURE.117.004800. PMID: 30354361
Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, Mowat D, Fitzsimons RB, Corbett AJ, Ryan MM, O'Grady GL, Sandaradura SA, Ghaoui R, Joshi H, Marshall JL, Nolan MA, Kaur S, Punetha J, Töpf A, Harris E, Bakshi M, Genetti CA, Marttila M, Werlauff U, Streichenberger N, Pestronk A, Mazanti I, Pinner JR, Vuillerot C, Grosmann C, Camacho A, Mohassel P, Leach ME, Foley AR, Bharucha-Goebel D, Collins J, Connolly AM, Gilbreath HR, Iannaccone ST, Castro D, Cummings BB, Webster RI, Lazaro L, Vissing J, Coppens S, Deconinck N, Luk HM, Thomas NH, Foulds NC, Illingworth MA, Ellard S, McLean CA, Phadke R, Ravenscroft G, Witting N, Hackman P, Richard I, Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bönnemann CG, MacArthur DG, Granzier H, Davis MR, Laing NG
Ann Neurol 2018 Jun;83(6):1105-1124. doi: 10.1002/ana.25241. PMID: 29691892Free PMC Article
Nicolaides AN; Cardiovascular Disease Educational and Research Trust; European Society of Vascular Surgery; ,The International Angiology Scientific Activity Congress Organization; International Union of Angiology; Union Internationale de Phlebologie at the Abbaye des Vaux de Cernay
Circulation 2000 Nov 14;102(20):E126-63. doi: 10.1161/01.cir.102.20.e126. PMID: 11076834
Viljoen D
J Med Genet 1994 Aug;31(8):640-3. doi: 10.1136/jmg.31.8.640. PMID: 7815423Free PMC Article

Clinical prediction guides

Rodriguez-Graña T, Rodríguez-Labrada R, Santana-Porbén S, Reynaldo-Cejas L, Medrano-Montero J, Canales-Ochoa N, Silva-Ricardo Y, Torres-Vega R, González-Zaldivar Y, Almaguer-Gotay D, Auburger G, Velázquez-Pérez L
Nutr Neurosci 2022 Aug;25(8):1747-1755. Epub 2021 Mar 9 doi: 10.1080/1028415X.2021.1895479. PMID: 33687306
Kiss NK, Denehy L, Edbrooke L, Prado CM, Ball D, Siva S, Abbott G, Ugalde A, Fraser SF, Everitt S, Hardcastle N, Wirth A, Daly RM
BMJ Open 2021 Sep 27;11(9):e051665. doi: 10.1136/bmjopen-2021-051665. PMID: 34580100Free PMC Article
Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, Mowat D, Fitzsimons RB, Corbett AJ, Ryan MM, O'Grady GL, Sandaradura SA, Ghaoui R, Joshi H, Marshall JL, Nolan MA, Kaur S, Punetha J, Töpf A, Harris E, Bakshi M, Genetti CA, Marttila M, Werlauff U, Streichenberger N, Pestronk A, Mazanti I, Pinner JR, Vuillerot C, Grosmann C, Camacho A, Mohassel P, Leach ME, Foley AR, Bharucha-Goebel D, Collins J, Connolly AM, Gilbreath HR, Iannaccone ST, Castro D, Cummings BB, Webster RI, Lazaro L, Vissing J, Coppens S, Deconinck N, Luk HM, Thomas NH, Foulds NC, Illingworth MA, Ellard S, McLean CA, Phadke R, Ravenscroft G, Witting N, Hackman P, Richard I, Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bönnemann CG, MacArthur DG, Granzier H, Davis MR, Laing NG
Ann Neurol 2018 Jun;83(6):1105-1124. doi: 10.1002/ana.25241. PMID: 29691892Free PMC Article
Nonnekes J, Benda N, van Duijnhoven H, Lem F, Keijsers N, Louwerens JWK, Pieterse A, Renzenbrink B, Weerdesteyn V, Buurke J, Geurts ACH
JAMA Neurol 2018 Jun 1;75(6):751-758. doi: 10.1001/jamaneurol.2017.5041. PMID: 29482203
Nicolaides AN; Cardiovascular Disease Educational and Research Trust; European Society of Vascular Surgery; ,The International Angiology Scientific Activity Congress Organization; International Union of Angiology; Union Internationale de Phlebologie at the Abbaye des Vaux de Cernay
Circulation 2000 Nov 14;102(20):E126-63. doi: 10.1161/01.cir.102.20.e126. PMID: 11076834

Recent systematic reviews

Milani GP, Mazzoni MBM, Gatti H, Bertolozzi G, Fossali EF
Pediatr Neurol 2017 Jun;71:77-81.e1. Epub 2017 Jan 24 doi: 10.1016/j.pediatrneurol.2017.01.002. PMID: 28476523
Kennedy RA, Carroll K, McGinley JL
J Peripher Nerv Syst 2016 Dec;21(4):317-328. doi: 10.1111/jns.12183. PMID: 27513454
Gross R, Degive C, Dernis E, Plat M, Dubourg O, Puéchal X
Semin Arthritis Rheum 2008 Aug;38(1):20-7. Epub 2008 Feb 21 doi: 10.1016/j.semarthrit.2007.09.004. PMID: 18206215

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