Orofasiyal yarıklar (orofacial clefts; OFC)

Gen mutasyonları sonucu (çoğu TP63 mutasyonu)

Dudak yarığı ± damak yarığı saptanan hastaların çoğu non-sendromik olgulardır.

Orofasiyal yarıklarda ortak bulgular: dudak yarığı ± sert damak yarığı/yumuşak damak yarığı

 

Sendromik olgular:

 

Yarık damak bulgusu içeren, ancak tek olguya (ya da tek aileye) özgü çok ender olgulara bu grup içersinde yer verilmemektedir.

 

Non-sendromik olgular (ayrıntıları verilmemiştir) :

* Yarık damak-kalp defektleri-zeka geriliği sendromu (Cleft palate, Cardiac defects, Mental retardation-CPCMR)

* Konjenital sıkıştırma bandları (congenital constricting bands)

* OFC1

* OFC2

* OFC4

* OFC5

* OFC6

* OFC9

* OFC10

* OFC11

* OFC12

 

Ender olgular (ayrıntıları verilmemiştir):

* OFC13

* Acrocardiofacial sendrom (ACFS)

* Acrofrontofacionasal dysostosis

* Okamoto sendromu

* Crane-Heise sendromu

* COB1 sendromu

* Ankyloblepharon filiforme adnatumAnkyloblepharon filiforme adnatum

* Steinfeld sendromu

* HCA1 (Absorptive hypercalciuria 1)

* Fine-Lubinsky sendromu

* Microtia-Aortic arch sendromu

* Holoprosencephaly sendromları (10 fenotip)

* Tyshchenko sendromu

* Rosselli-Gulienetti sendromu

* Lowry-MacLean sendromu

* Johnson-McMillin sendromu

* Omfalosel-Yarık damak sendromu

* Osteokondrodisplazi (lethal, Symoens-Barnes-Gistelinck tipi)

* Dinçsoy sendromu

* Balcı sendromu

* Tütüncüoğlu sendromu

* Palant cleft palate sendromu

* 15q11.2 deletion sendromu

* Stevenson-Carey sendromu

* ACLH sendromu

* Microcephaly-Micromelia sendromu

* Abruzzo-Erickson sendromu

* Mikrosefali-kapiller malformasyon sendromu (MICCAP)

* Weyers ulnar ray/oligodactyly sendromu

* HMC sendromu

* Siderus-Hamel sendromu

* Hardikar sendromu

* 15q14 deletion sendromu

* Oculopalatocerebral sendrom

* Adducted thumbs sendromu

* Sweeney-Cox sendromu

* MFHIEN sendromu (midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis)

* 15q25.2 microdeletion sendromları

* Oblik yüz yarıkları sendromu

* Baratella-Scott sendromu

* Acrocraniofacial dysostosis

* Pallister W sendromu

* CAP sendromu

* 10q24 duplikasyon sendromu

 

  • Richieri-Costa A, Gorlin RJ. Oblique facial clefts: report on 4 Brazilian patients--evidence for clinical variability and genetic heterogeneity. American Journal of Medical Genetics, 53: 222-226, 1994 Weyers ulnar ray/oligodactyly syndrome

  • Mastroiacovo P, Corchia C, Botto LD, et al. Epidemiology and genetics of microtia-anotia: a registry based study on over one million births. Journal of Medical Genetics, 32: 453-457, 1995

  • Tütüncüoğlu S, Özkınay F, Genel F, et al. A case report: corpus callosum dysgenesis, microcephaly, infantile spasm, cleft lip-palate, exophthalmos and psychomotor retardation. Clinical Genetics, 49: 220-222, 1996

  • Goizet C, Bonneau D, Lacombe D. W syndrome: report of three cases and review. American Journal of Medical Genetics, 87: 446-449, 1999

  • Scapoli L, Martinelli M, Pezzetti F, et al. Linkage disequilibrium between GABRB3 gene and nonsyndromic familial cleft lip with or without cleft palate. Human Genetics, 110: 15-20, 2002

  • Barrow LL, van Bokhoven H, Daack-Hirsch S, et al. Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts. Journal of Medical Genetics, 2002;39:559–566, 2002

  • Blanton SH, Bertin T, Serna ME, et al. Association of chromosomal regions 3p21.2, 10p13, and 16p13.3 with nonsyndromic cleft lip and palate. American Journal of Medical Genetics,125A: 23-27, 2004

  • Balcı, S, Akcan B, Vargel I, et al. Familial syndrome of unusual triangular facies associated with cleft palate, malocclusion, midfacial hypoplasia and sensorineural hearing loss in two siblings: is it a new autosomal recessive syndrome? Clinical Dysmorphology, 13: 71-74, 2004

  • Elliott AM, Evans JA. Genotype-phenotype correlations in mapped split hand foot malformation (SHFM) patients. American Journal of Medical Genetics, 140A: 1419-1427, 2006

  • Rinne T, Brunner HG, van Bokhoven H. p63-associated disorders. Cell Cycle, 6:262–268, 2007

  • Neiswanger K, Weinberg SM, Rogers CR, et al. Orbicularis oris muscle defects as an expanded phenotypic feature in nonsyndromic cleft lip with or without cleft palate. American Journal of Medical Genetics A,143A: 1143-1149, 2007

  • Shi M, Christensen K, Weinberg CR, et al. Orofacial cleft risk is increased with maternal smoking and specific detoxification-gene variants. American Journal of Human Genetics, 80: 76-90, 2007

  • Chiquet, B. T., Blanton, S. H., Burt, A., Ma, D., Stal, S., Mulliken, J. B., Hecht, J. T. Variation in WNT genes is associated with non-syndromic cleft lip with or without cleft palate. Human Molecular Genetics, 17: 2212-2218, 2008

  • Moreno LM, Mansilla MA, Bullard SA, et al. FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate. Human Molecular Genetics, 18: 4879-4896, 2009

  • Sutton VR, van Bokhoven H. TP63-related disorders, In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. University of Washington, Seattle;  2010

  • Ghassibe-Sabbagh M, Desmyter L, Langenberg T, et al. FAF1, a gene that is disrupted in cleft palate and has conserved function in zebrafish. American Journal of Human Genetics, 88: 150-161, 2011

  • Baratela WAR, Bober MB, Tiller GE, et al. A newly recognized syndrome with characteristic facial features, skeletal dysplasia, and developmental delay. American Journal of Medical Genetics,158A: 1815-1822, 2012

  • Andreoletti G, Seaby EG, Dewing JM, et al. AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis. Journal of Medical Genetics, 54: 269-277, 2017