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Ichthyosis-oral and digital anomalies syndrome

MedGen UID:
342457
Concept ID:
C1850268
Disease or Syndrome
Synonyms: Ichthyosis tapered fingers midline groove up; Oral and digital anomalies with ichthyosis; Unusual facies, digital abnormalities, and ichthyosis
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Monarch Initiative: MONDO:0009792
OMIM®: 258840
Orphanet: ORPHA2272

Definition

Ichthyosis-oral and digital anomalies syndrome is characterised by ichthyosis, unusual facies (small mouth with a thin upper lip and lower lip with a midline groove) and digital anomalies (tapered fingers with a lack of distal flexion creases and wide spacing between the second and third fingers). It has been described in two sibs born to first cousin parents. Transmission appears to be autosomal recessive. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIchthyosis-oral and digital anomalies syndrome
Follow this link to review classifications for Ichthyosis-oral and digital anomalies syndrome in Orphanet.

Professional guidelines

PubMed

Carrington EV, Popa SL, Chiarioni G
Curr Gastroenterol Rep 2020 Jun 9;22(7):35. doi: 10.1007/s11894-020-00768-0. PMID: 32519087
Parasher A, Jhamb R
Postgrad Med J 2020 Oct;96(1140):623-628. Epub 2020 May 28 doi: 10.1136/postgradmedj-2020-137706. PMID: 32467104
Gulati A, McElrath C, Wadhwa V, Shah JP, Chhabra A
Br J Radiol 2018 Jun;91(1086):20170456. Epub 2018 Jan 22 doi: 10.1259/bjr.20170456. PMID: 29303366Free PMC Article

Recent clinical studies

Etiology

Pergola V, Continisio S, Mantovani F, Motta R, Mattesi G, Marrazzo G, Dellino CM, Montonati C, De Conti G, Galzerano D, Parato VM, Gimelli A, Barchitta A, Campana M, D'Andrea A
Eur Heart J Cardiovasc Imaging 2023 Jun 21;24(7):839-850. doi: 10.1093/ehjci/jead060. PMID: 37082977
Ruggieri M, Polizzi A, Catanzaro S, Bianco ML, Praticò AD, Di Rocco C
Childs Nerv Syst 2020 Oct;36(10):2571-2596. Epub 2020 Oct 13 doi: 10.1007/s00381-020-04770-9. PMID: 33048248
Apaydin M
Surg Radiol Anat 2020 Feb;42(2):111-119. Epub 2019 Sep 19 doi: 10.1007/s00276-019-02341-5. PMID: 31538247
Sigakis CJG, Browne LP, Bang T, Khanna A, Pruente R, Vargas D
J Thorac Imaging 2019 May;34(3):W23-W35. doi: 10.1097/RTI.0000000000000372. PMID: 30376482
Mortensen KH, Gopalan D, Nørgaard BL, Andersen NH, Gravholt CH
Cardiol Young 2016 Jun;26(5):831-41. Epub 2016 Feb 4 doi: 10.1017/S1047951115002735. PMID: 26843123

Diagnosis

Ginat DT
Neuroimaging Clin N Am 2019 Feb;29(1):117-128. Epub 2018 Oct 29 doi: 10.1016/j.nic.2018.08.004. PMID: 30466636
Al-Riyami AM, Tan HK, Peh WCG
Can Assoc Radiol J 2017 Nov;68(4):431-437. Epub 2017 Aug 31 doi: 10.1016/j.carj.2017.04.001. PMID: 28865671
Kim JS, Hong KH, Hong YT, Han BH
Am J Otolaryngol 2015 Mar-Apr;36(2):190-4. Epub 2014 Oct 22 doi: 10.1016/j.amjoto.2014.10.028. PMID: 25484367
Arnold R, Chaudry G
Clin Plast Surg 2011 Jan;38(1):21-9. doi: 10.1016/j.cps.2010.08.014. PMID: 21095469
Cornier AS, Ramirez N, Carlo S, Reiss A
Curr Opin Pediatr 2003 Dec;15(6):614-20. doi: 10.1097/00008480-200312000-00012. PMID: 14631208

Therapy

Carrington EV, Popa SL, Chiarioni G
Curr Gastroenterol Rep 2020 Jun 9;22(7):35. doi: 10.1007/s11894-020-00768-0. PMID: 32519087
Parasher A, Jhamb R
Postgrad Med J 2020 Oct;96(1140):623-628. Epub 2020 May 28 doi: 10.1136/postgradmedj-2020-137706. PMID: 32467104
Sawh-Martinez R, Steinbacher DM
Clin Plast Surg 2019 Apr;46(2):141-155. doi: 10.1016/j.cps.2018.11.009. PMID: 30851747
Bachmann MC, Morais C, Bugedo G, Bruhn A, Morales A, Borges JB, Costa E, Retamal J
Crit Care 2018 Oct 25;22(1):263. doi: 10.1186/s13054-018-2195-6. PMID: 30360753Free PMC Article
Hinchey J, Chaves C, Appignani B, Breen J, Pao L, Wang A, Pessin MS, Lamy C, Mas JL, Caplan LR
N Engl J Med 1996 Feb 22;334(8):494-500. doi: 10.1056/NEJM199602223340803. PMID: 8559202

Prognosis

Giambersio E, Barile V, Giambersio AM
Arch Ital Urol Androl 2019 Jul 2;91(2) doi: 10.4081/aiua.2019.2.130. PMID: 31266283
Bachmann MC, Morais C, Bugedo G, Bruhn A, Morales A, Borges JB, Costa E, Retamal J
Crit Care 2018 Oct 25;22(1):263. doi: 10.1186/s13054-018-2195-6. PMID: 30360753Free PMC Article
Bloom J, Upton J 3rd
J Hand Surg Am 2013 Dec;38(12):2508-12. Epub 2013 Oct 23 doi: 10.1016/j.jhsa.2013.08.120. PMID: 24161472
Mathrawala NR, Hegde RJ
J Indian Soc Pedod Prev Dent 2011 Apr-Jun;29(2):168-70. doi: 10.4103/0970-4388.84693. PMID: 21911959
Cornier AS, Ramirez N, Carlo S, Reiss A
Curr Opin Pediatr 2003 Dec;15(6):614-20. doi: 10.1097/00008480-200312000-00012. PMID: 14631208

Clinical prediction guides

Apaydin M
Surg Radiol Anat 2020 Feb;42(2):111-119. Epub 2019 Sep 19 doi: 10.1007/s00276-019-02341-5. PMID: 31538247
Dempsey RF, Monson LA, Maricevich RS, Truong TA, Olarunnipa S, Lam SK, Dauser RC, Hollier LH Jr, Buchanan EP
Clin Plast Surg 2019 Apr;46(2):123-139. Epub 2019 Jan 30 doi: 10.1016/j.cps.2018.11.001. PMID: 30851746
Shankar J, Banfield J
Can Assoc Radiol J 2017 May;68(2):147-153. Epub 2017 Jan 26 doi: 10.1016/j.carj.2016.08.005. PMID: 28131335
Blaser SI, Padfield N, Chitayat D, Forrest CR
Pediatr Radiol 2015 Sep;45 Suppl 3:S485-96. Epub 2015 Sep 7 doi: 10.1007/s00247-015-3320-1. PMID: 26346154
Radhakrishnan J, Bean J, Piazza DJ, Chin AC
J Pediatr Surg 2014 Aug;49(8):1326-31. doi: 10.1016/j.jpedsurg.2014.03.005. PMID: 25092100

Recent systematic reviews

Wolffsohn JS, Lingham G, Downie LE, Huntjens B, Inomata T, Jivraj S, Kobia-Acquah E, Muntz A, Mohamed-Noriega K, Plainis S, Read M, Sayegh RR, Singh S, Utheim TP, Craig JP
Ocul Surf 2023 Apr;28:213-252. Epub 2023 Apr 14 doi: 10.1016/j.jtos.2023.04.004. PMID: 37062428
Lee JH, Yim JJ, Park J
Respir Res 2022 Sep 6;23(1):233. doi: 10.1186/s12931-022-02163-x. PMID: 36068582Free PMC Article
Marques LHS, Martins DV, Juares GL, Lorenzetti FTM, Monsanto RDC
Int J Pediatr Otorhinolaryngol 2017 Oct;101:223-229. Epub 2017 Aug 22 doi: 10.1016/j.ijporl.2017.08.020. PMID: 28964299
Eagleton MJ
J Vasc Surg 2016 Dec;64(6):1869-1880. Epub 2016 Sep 26 doi: 10.1016/j.jvs.2016.06.120. PMID: 27687326
Offiah AC
Endocr Dev 2015;28:259-276. Epub 2015 Jun 12 doi: 10.1159/000381051. PMID: 26138847

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