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Abnormality of dorsoventral patterning of the limbs

MedGen UID:
867783
Concept ID:
C4022174
Anatomical Abnormality
HPO: HP:0100270

Definition

An abnormality resulting from a defect or disruption of dorsoventral patterning that normally happens during early development of the limbs. A disruption of the normal development of the dorsoventral axis may lead to a variable spectrum of different phenotypic abnormalities that may affect the nails and or palmar and dorsal side of the hands and/or feet, ultimately changing the normal dorsoventral appearance of the affected limbs. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormality of dorsoventral patterning of the limbs

Recent clinical studies

Etiology

Lindelöf H, Horemuzova E, Voss U, Nordgren A, Grigelioniene G, Hammarsjö A
Front Endocrinol (Lausanne) 2022;13:862908. Epub 2022 Jun 13 doi: 10.3389/fendo.2022.862908. PMID: 35769074Free PMC Article
Al-Qattan MM
J Hand Surg Eur Vol 2014 Nov;39(9):958-65. Epub 2013 Dec 20 doi: 10.1177/1753193413517458. PMID: 24362255
Bongers EM, van Kampen A, van Bokhoven H, Knoers NV
Clin Genet 2005 Oct;68(4):302-19. doi: 10.1111/j.1399-0004.2005.00508.x. PMID: 16143015

Diagnosis

Lindelöf H, Horemuzova E, Voss U, Nordgren A, Grigelioniene G, Hammarsjö A
Front Endocrinol (Lausanne) 2022;13:862908. Epub 2022 Jun 13 doi: 10.3389/fendo.2022.862908. PMID: 35769074Free PMC Article
Al-Qattan MM
J Hand Surg Eur Vol 2014 Nov;39(9):958-65. Epub 2013 Dec 20 doi: 10.1177/1753193413517458. PMID: 24362255
Fattah A, Pickford MA
J Hand Surg Eur Vol 2007 Oct;32(5):534-6. Epub 2007 May 25 doi: 10.1016/J.JHSE.2007.03.001. PMID: 17950216

Therapy

Lee GS, Kochhar DM, Collins MD
Curr Pharm Des 2004;10(22):2657-99. doi: 10.2174/1381612043383728. PMID: 15320736

Prognosis

Lindelöf H, Horemuzova E, Voss U, Nordgren A, Grigelioniene G, Hammarsjö A
Front Endocrinol (Lausanne) 2022;13:862908. Epub 2022 Jun 13 doi: 10.3389/fendo.2022.862908. PMID: 35769074Free PMC Article
Witzgall R
Pflugers Arch 2017 Aug;469(7-8):927-936. Epub 2017 Jul 5 doi: 10.1007/s00424-017-2013-z. PMID: 28681095

Clinical prediction guides

Woods CG, Stricker S, Seemann P, Stern R, Cox J, Sherridan E, Roberts E, Springell K, Scott S, Karbani G, Sharif SM, Toomes C, Bond J, Kumar D, Al-Gazali L, Mundlos S
Am J Hum Genet 2006 Aug;79(2):402-8. Epub 2006 Jun 23 doi: 10.1086/506332. PMID: 16826533Free PMC Article

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