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Craniofacial-skeletal-dermatologic dysplasia(ACS5)

MedGen UID:
67390
Concept ID:
C0220658
Disease or Syndrome
Synonyms: Acrocephalosyndactylies, Type V; Acrocephalosyndactyly, Type V; Craniofacial-Skeletal-Dermatologic Dysplasia; Noack Syndrome; Noack Syndromes; Pfeiffer Syndrome; Syndrome, Noack; Syndrome, Pfeiffer; Syndromes, Noack; Type V Acrocephalosyndactylies; Type V Acrocephalosyndactyly
SNOMED CT: Pfeiffer syndrome (70410008); Pfeiffer-type acrocephalosyndactyly (70410008); Acrocephalosyndactyly type V (70410008)
 
OMIM®: 101600; 136350; 176943

Definition

An autosomal dominant inherited type of acrocephalosyndactyly caused by mutations in the FGFR1 or FGFR2 genes. It is characterized by early closure of the sutures between the skull bones, bulging and wide-set eyes, broad thumbs, big toes, and partial syndactyly in the hands and toes. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCraniofacial-skeletal-dermatologic dysplasia

Recent clinical studies

Etiology

Calis M, Oznur A, Ekin O, Vargel I
J Pediatr Orthop 2016 Sep;36(6):582-8. doi: 10.1097/BPO.0000000000000503. PMID: 25929771
Forte AJ, Steinbacher DM, Persing JA, Brooks ED, Andrew TW, Alonso N
Plast Reconstr Surg 2015 Nov;136(5):1054-62. doi: 10.1097/PRS.0000000000001693. PMID: 26505706
Spruijt B, Rijken BF, Joosten KF, Bredero-Boelhouwer HH, Pullens B, Lequin MH, Wolvius EB, van Veelen-Vincent ML, Mathijssen IM
Childs Nerv Syst 2015 Mar;31(3):481-6. Epub 2014 Nov 30 doi: 10.1007/s00381-014-2601-6. PMID: 25433548
Greig AV, Wagner J, Warren SM, Grayson B, McCarthy JG
J Craniofac Surg 2013 Jan;24(1):204-15. doi: 10.1097/SCS.0b013e31826704be. PMID: 23348287
Fearon JA, Podner C
Plast Reconstr Surg 2013 Jan;131(1):132-42. doi: 10.1097/PRS.0b013e3182729f42. PMID: 23271523

Diagnosis

Calis M, Oznur A, Ekin O, Vargel I
J Pediatr Orthop 2016 Sep;36(6):582-8. doi: 10.1097/BPO.0000000000000503. PMID: 25929771
Curran TA, Cronin K
Ir J Med Sci 2016 Aug;185(3):745-8. Epub 2015 Mar 17 doi: 10.1007/s11845-015-1279-4. PMID: 25777356
Flöttmann R, Knaus A, Zemojtel T, Robinson PN, Mundlos S, Horn D, Spielmann M
Eur J Med Genet 2015 Aug;58(8):376-80. Epub 2015 Jun 19 doi: 10.1016/j.ejmg.2015.05.007. PMID: 26096994
Ercoli G, Bidondo MP, Senra BC, Groisman B
Birth Defects Res A Clin Mol Teratol 2014 Sep;100(9):726-9. Epub 2014 Jul 21 doi: 10.1002/bdra.23270. PMID: 25045033
Koga H, Suga N, Nakamoto T, Tanaka K, Takahashi N
Am J Med Genet A 2012 Oct;158A(10):2506-10. Epub 2012 Sep 10 doi: 10.1002/ajmg.a.35590. PMID: 22965899

Therapy

Calis M, Oznur A, Ekin O, Vargel I
J Pediatr Orthop 2016 Sep;36(6):582-8. doi: 10.1097/BPO.0000000000000503. PMID: 25929771
Tsukamoto M, Yokoyama T
Anesth Prog 2015 Fall;62(3):122-4. doi: 10.2344/0003-3006-62.3.122. PMID: 26398130Free PMC Article
Cobb AR, Vourvachis M, Ahmed J, Wyatt M, Dunaway D, Hayward R
J Craniomaxillofac Surg 2015 Oct;43(8):1511-5. Epub 2015 Jul 20 doi: 10.1016/j.jcms.2015.07.005. PMID: 26293186
Katsuragi YT, Gomi A, Sunaga A, Miyazaki K, Kamochi H, Arai F, Fukushima N, Sugawara Y
J Neurosurg Pediatr 2013 Dec;12(6):622-5. Epub 2013 Oct 4 doi: 10.3171/2013.9.PEDS13187. PMID: 24093591
Goldstein JA, Paliga JT, Bailey RL, Heuer GG, Taylor JA
J Craniofac Surg 2013 Jul;24(4):1263-7. doi: 10.1097/SCS.0b013e318286081f. PMID: 23851785

Prognosis

Xie C, De S, Selby A
J Craniofac Surg 2016 Jan;27(1):137-41. doi: 10.1097/SCS.0000000000002333. PMID: 26674912
Forte AJ, Steinbacher DM, Persing JA, Brooks ED, Andrew TW, Alonso N
Plast Reconstr Surg 2015 Nov;136(5):1054-62. doi: 10.1097/PRS.0000000000001693. PMID: 26505706
Spruijt B, Rijken BF, Joosten KF, Bredero-Boelhouwer HH, Pullens B, Lequin MH, Wolvius EB, van Veelen-Vincent ML, Mathijssen IM
Childs Nerv Syst 2015 Mar;31(3):481-6. Epub 2014 Nov 30 doi: 10.1007/s00381-014-2601-6. PMID: 25433548
Crombag GA, Verdoorn MH, Nikkhah D, Ponniah AJ, Ruff C, Dunaway D
J Plast Reconstr Aesthet Surg 2014 Jun;67(6):e151-61. Epub 2014 Mar 12 doi: 10.1016/j.bjps.2014.02.019. PMID: 24709088
Roscioli T, Elakis G, Cox TC, Moon DJ, Venselaar H, Turner AM, Le T, Hackett E, Haan E, Colley A, Mowat D, Worgan L, Kirk EP, Sachdev R, Thompson E, Gabbett M, McGaughran J, Gibson K, Gattas M, Freckmann ML, Dixon J, Hoefsloot L, Field M, Hackett A, Kamien B, Edwards M, Adès LC, Collins FA, Wilson MJ, Savarirayan R, Tan TY, Amor DJ, McGillivray G, White SM, Glass IA, David DJ, Anderson PJ, Gianoutsos M, Buckley MF
Am J Med Genet C Semin Med Genet 2013 Nov;163C(4):259-70. Epub 2013 Oct 11 doi: 10.1002/ajmg.c.31378. PMID: 24127277

Clinical prediction guides

Adel M, Yamaguchi T, Tomita D, Nakawaki T, Kim YI, Hikita Y, Haga S, Takahashi M, Nadim MA, Kawaguchi A, Isa M, El-Kenany WH, El-Kadi AA, Park SB, Ishida H, Maki K, Kimura R
PLoS One 2017;12(1):e0170645. Epub 2017 Jan 27 doi: 10.1371/journal.pone.0170645. PMID: 28129408Free PMC Article
Calis M, Oznur A, Ekin O, Vargel I
J Pediatr Orthop 2016 Sep;36(6):582-8. doi: 10.1097/BPO.0000000000000503. PMID: 25929771
Curran TA, Cronin K
Ir J Med Sci 2016 Aug;185(3):745-8. Epub 2015 Mar 17 doi: 10.1007/s11845-015-1279-4. PMID: 25777356
Crombag GA, Verdoorn MH, Nikkhah D, Ponniah AJ, Ruff C, Dunaway D
J Plast Reconstr Aesthet Surg 2014 Jun;67(6):e151-61. Epub 2014 Mar 12 doi: 10.1016/j.bjps.2014.02.019. PMID: 24709088
Greig AV, Wagner J, Warren SM, Grayson B, McCarthy JG
J Craniofac Surg 2013 Jan;24(1):204-15. doi: 10.1097/SCS.0b013e31826704be. PMID: 23348287

Recent systematic reviews

Khong JJ, Anderson P, Gray TL, Hammerton M, Selva D, David D
Ophthalmology 2006 Feb;113(2):347-52. doi: 10.1016/j.ophtha.2005.10.011. PMID: 16458095
de Heer IM, de Klein A, van den Ouweland AM, Vermeij-Keers C, Wouters CH, Vaandrager JM, Hovius SE, Hoogeboom JM
Plast Reconstr Surg 2005 Jun;115(7):1894-902; discussion 1903-5. PMID: 15923834
Wong GB, Kakulis EG, Mulliken JB
Plast Reconstr Surg 2000 Jun;105(7):2314-23. PMID: 10845283
Bruce DA
Childs Nerv Syst 1996 Nov;12(11):734-6. PMID: 9118139
Stewart RE, Dixon G, Cohen A
Plast Reconstr Surg 1977 May;59(5):699-707. PMID: 850706

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