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Abnormal digit morphology

MedGen UID:
763618
Concept ID:
C3550704
Anatomical Abnormality; Finding
Synonym: Abnormality of digit
 
HPO: HP:0011297

Definition

A morphological abnormality of a digit, i.e., of a finger or toe. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Abnormal digit morphology

Conditions with this feature

Microbrachycephaly-ptosis-cleft lip syndrome
MedGen UID:
162914
Concept ID:
C0796142
Disease or Syndrome
The Richieri-Costa/Guion-Almeida syndrome is characterized by mild mental retardation, short stature, microbrachycephaly, ptosis, esotropia, cleft lip/palate (Richieri-Costa and Guion-Almeida, 1992).
CK syndrome
MedGen UID:
463131
Concept ID:
C3151781
Disease or Syndrome
The NSDHL-related disorders include: CHILD (congenital hemidysplasia with ichthyosiform nevus and limb defects) syndrome, an X-linked condition that is usually male lethal during gestation and thus predominantly affects females; and CK syndrome, an X-linked disorder that affects males. CHILD syndrome is characterized by unilateral distribution of ichthyosiform (yellow scaly) skin lesions and ipsilateral limb defects that range from shortening of the metacarpals and phalanges to absence of the entire limb. Intellect is usually normal. The ichthyosiform skin lesions are usually present at birth or in the first weeks of life; new lesions can develop in later life. Nail changes are also common. The heart, lung, and kidneys can also be involved. CK syndrome (named for the initials of the original proband) is characterized by mild to severe cognitive impairment and behavior problems (aggression, attention deficit hyperactivity disorder, and irritability). All affected males reported have developed seizures in infancy and have cerebral cortical malformations and microcephaly. All have distinctive facial features, a thin habitus, and relatively long, thin fingers and toes. Some have scoliosis and kyphosis. Strabismus is common. Optic atrophy is also reported.

Professional guidelines

PubMed

Rubio EI, Blask A, Bulas DI
Pediatr Radiol 2016 May;46(5):709-18. Epub 2016 Feb 25 doi: 10.1007/s00247-016-3550-x. PMID: 26914936
Overbury R, Murtaugh MA, Fischer A, Frech TM
Clin Rheumatol 2015 Dec;34(12):2135-40. Epub 2015 Sep 23 doi: 10.1007/s10067-015-3062-3. PMID: 26400642
Vergano SS, Deardorff MA
Am J Med Genet C Semin Med Genet 2014 Sep;166C(3):252-6. Epub 2014 Aug 28 doi: 10.1002/ajmg.c.31411. PMID: 25169447

Recent clinical studies

Etiology

Fremond S, Andani S, Barkey Wolf J, Dijkstra J, Melsbach S, Jobsen JJ, Brinkhuis M, Roothaan S, Jurgenliemk-Schulz I, Lutgens LCHW, Nout RA, van der Steen-Banasik EM, de Boer SM, Powell ME, Singh N, Mileshkin LR, Mackay HJ, Leary A, Nijman HW, Smit VTHBM, Creutzberg CL, Horeweg N, Koelzer VH, Bosse T
Lancet Digit Health 2023 Feb;5(2):e71-e82. Epub 2022 Dec 7 doi: 10.1016/S2589-7500(22)00210-2. PMID: 36496303
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
Baglam T, Binnetoglu A, Fatih Topuz M, Baş Ikizoglu N, Ersu R, Turan S, Sarı M
Int J Pediatr Otorhinolaryngol 2017 Apr;95:91-96. Epub 2017 Feb 11 doi: 10.1016/j.ijporl.2017.02.009. PMID: 28576543
Guo B, Lee SK, Paksima N
Bull Hosp Jt Dis (2013) 2013;71(1):17-23. PMID: 24032579
Temtamy SA, Aglan MS
Orphanet J Rare Dis 2008 Jun 13;3:15. doi: 10.1186/1750-1172-3-15. PMID: 18554391Free PMC Article

Diagnosis

Fremond S, Andani S, Barkey Wolf J, Dijkstra J, Melsbach S, Jobsen JJ, Brinkhuis M, Roothaan S, Jurgenliemk-Schulz I, Lutgens LCHW, Nout RA, van der Steen-Banasik EM, de Boer SM, Powell ME, Singh N, Mileshkin LR, Mackay HJ, Leary A, Nijman HW, Smit VTHBM, Creutzberg CL, Horeweg N, Koelzer VH, Bosse T
Lancet Digit Health 2023 Feb;5(2):e71-e82. Epub 2022 Dec 7 doi: 10.1016/S2589-7500(22)00210-2. PMID: 36496303
Holmes LB, Nasri HZ
Am J Med Genet A 2022 Nov;188(11):3236-3241. Epub 2022 Sep 8 doi: 10.1002/ajmg.a.62941. PMID: 36073773
Baglam T, Binnetoglu A, Fatih Topuz M, Baş Ikizoglu N, Ersu R, Turan S, Sarı M
Int J Pediatr Otorhinolaryngol 2017 Apr;95:91-96. Epub 2017 Feb 11 doi: 10.1016/j.ijporl.2017.02.009. PMID: 28576543
Guo B, Lee SK, Paksima N
Bull Hosp Jt Dis (2013) 2013;71(1):17-23. PMID: 24032579
Temtamy SA, Aglan MS
Orphanet J Rare Dis 2008 Jun 13;3:15. doi: 10.1186/1750-1172-3-15. PMID: 18554391Free PMC Article

Therapy

Fremond S, Andani S, Barkey Wolf J, Dijkstra J, Melsbach S, Jobsen JJ, Brinkhuis M, Roothaan S, Jurgenliemk-Schulz I, Lutgens LCHW, Nout RA, van der Steen-Banasik EM, de Boer SM, Powell ME, Singh N, Mileshkin LR, Mackay HJ, Leary A, Nijman HW, Smit VTHBM, Creutzberg CL, Horeweg N, Koelzer VH, Bosse T
Lancet Digit Health 2023 Feb;5(2):e71-e82. Epub 2022 Dec 7 doi: 10.1016/S2589-7500(22)00210-2. PMID: 36496303
Case RA, Patel V, Mejia-Otero C, Siroy AE, Patel DC
J Investig Med High Impact Case Rep 2020 Jan-Dec;8:2324709620940496. doi: 10.1177/2324709620940496. PMID: 32643953Free PMC Article
Schrauwen I, Giese AP, Aziz A, Lafont DT, Chakchouk I, Santos-Cortez RLP, Lee K, Acharya A, Khan FS, Ullah A, Nickerson DA, Bamshad MJ, Ali G, Riazuddin S, Ansar M, Ahmad W, Ahmed ZM, Leal SM
J Bone Miner Res 2019 Feb;34(2):375-386. Epub 2018 Nov 5 doi: 10.1002/jbmr.3594. PMID: 30395363Free PMC Article
Baglam T, Binnetoglu A, Fatih Topuz M, Baş Ikizoglu N, Ersu R, Turan S, Sarı M
Int J Pediatr Otorhinolaryngol 2017 Apr;95:91-96. Epub 2017 Feb 11 doi: 10.1016/j.ijporl.2017.02.009. PMID: 28576543
Kim M, Jung HY, Eun YS, Cho BK, Park HJ
Int J Dermatol 2015 Nov;54(11):1255-60. doi: 10.1111/ijd.12643. PMID: 26474189

Prognosis

Fremond S, Andani S, Barkey Wolf J, Dijkstra J, Melsbach S, Jobsen JJ, Brinkhuis M, Roothaan S, Jurgenliemk-Schulz I, Lutgens LCHW, Nout RA, van der Steen-Banasik EM, de Boer SM, Powell ME, Singh N, Mileshkin LR, Mackay HJ, Leary A, Nijman HW, Smit VTHBM, Creutzberg CL, Horeweg N, Koelzer VH, Bosse T
Lancet Digit Health 2023 Feb;5(2):e71-e82. Epub 2022 Dec 7 doi: 10.1016/S2589-7500(22)00210-2. PMID: 36496303
Raap M, Gierendt L, Kreipe HH, Christgen M
Int J Cancer 2021 Sep 15;149(6):1221-1227. Epub 2021 Mar 26 doi: 10.1002/ijc.33558. PMID: 33720400
Wu J, Tian G, Ji Y, Higgins JP, Lee WPA
J Hand Surg Am 2020 Oct;45(10):982.e1-982.e5. Epub 2020 Apr 13 doi: 10.1016/j.jhsa.2020.03.002. PMID: 32299688
Temtamy SA, Aglan MS
Orphanet J Rare Dis 2008 Jun 13;3:15. doi: 10.1186/1750-1172-3-15. PMID: 18554391Free PMC Article
Kotwal PP, Farooque M
J Bone Joint Surg Br 1998 Jul;80(4):651-3. doi: 10.1302/0301-620x.80b4.8489. PMID: 9699830

Clinical prediction guides

Fremond S, Andani S, Barkey Wolf J, Dijkstra J, Melsbach S, Jobsen JJ, Brinkhuis M, Roothaan S, Jurgenliemk-Schulz I, Lutgens LCHW, Nout RA, van der Steen-Banasik EM, de Boer SM, Powell ME, Singh N, Mileshkin LR, Mackay HJ, Leary A, Nijman HW, Smit VTHBM, Creutzberg CL, Horeweg N, Koelzer VH, Bosse T
Lancet Digit Health 2023 Feb;5(2):e71-e82. Epub 2022 Dec 7 doi: 10.1016/S2589-7500(22)00210-2. PMID: 36496303
Baglam T, Binnetoglu A, Fatih Topuz M, Baş Ikizoglu N, Ersu R, Turan S, Sarı M
Int J Pediatr Otorhinolaryngol 2017 Apr;95:91-96. Epub 2017 Feb 11 doi: 10.1016/j.ijporl.2017.02.009. PMID: 28576543
Baek GH, Kim J
J Hand Surg Asian Pac Vol 2016 Oct;21(3):283-91. doi: 10.1142/S2424835516400087. PMID: 27595943
Duchatelet S, Hovnanian A
Orphanet J Rare Dis 2015 Mar 17;10:33. doi: 10.1186/s13023-015-0246-5. PMID: 25886873Free PMC Article
Jongen PJ, Ter Horst AT, Brands AM
Minerva Med 2012 Apr;103(2):73-96. PMID: 22513513

Recent systematic reviews

Ahmad S, Ali MZ, Muzammal M, Mir FA, Khan MA
Mol Genet Genomics 2022 Sep;297(5):1195-1214. Epub 2022 Jul 30 doi: 10.1007/s00438-022-01930-1. PMID: 35907958
Richards G, Browne WV, Aydin E, Constantinescu M, Nave G, Kim MS, Watson SJ
Horm Behav 2020 Nov;126:104867. Epub 2020 Oct 6 doi: 10.1016/j.yhbeh.2020.104867. PMID: 32998030
Fayad LM, Ahlawat S, Khan MS, McCarthy E
Eur J Radiol 2015 Oct;84(10):2004-12. Epub 2015 Jul 2 doi: 10.1016/j.ejrad.2015.06.026. PMID: 26189572
Yammine K
Surg Radiol Anat 2015 Apr;37(3):247-54. Epub 2014 Aug 6 doi: 10.1007/s00276-014-1352-0. PMID: 25096501
Bakewell CJ, Olivieri I, Aydin SZ, Dejaco C, Ikeda K, Gutierrez M, Terslev L, Thiele R, D'Agostino MA, Kaeley GS; OMERACT Ultrasound Task Force
J Rheumatol 2013 Dec;40(12):1951-7. Epub 2013 Nov 1 doi: 10.3899/jrheum.130643. PMID: 24187105

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