Cleft lip

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Cleft lip

  1. 1.  Variations clefting congenital deformityduring gestation. Common birth defects---complex etiology Immediately recognizable disruptions Cleft is a fissure or opening—a gap Previously known as harelip
  2. 2.  Also affect other parts of the face, suchas the eyes, ears, nose, cheeks, andforehead. In 1976, Paul Tessier described fifteenlines of cleft. Facial clefting is the second mostcommon congenital deformity (afterclubfoot).
  3. 3. Approximately 1 in 700 live birthsThe frequency of CLP differs by sex2:1 male to female ratio for cleft lipalone1:2 male to female ratio for cleftpalate alone2:1 ratio of left to right sided cleftsamong unilateral cleft lip cases
  4. 4.  Prevalence rates varies within differentethnic groups. Highest prevalence rates - Native Americansand Asians Lowest prevalance rates- Africans Native Americans: 3.74/1000 Japanese: 0.82/1000 to 3.36/1000 Chinese: 1.45/1000 to 4.04/1000 Caucasians: 1.43/1000 to 1.86/1000 Latin Americans: 1.04/1000 Africans: 0.18/1000 to 1.67/1000
  5. 5. Rate of occurrence of CPO is similarfor Caucasians, Africans, NorthAmerican natives, Japanese andChinese.The trait is dominant.
  6. 6.  Involves the vermilion border of the upperlip and may extend through the lip towardthe nostril Affects the shape of the nose Can be either unilateral or bilateral Unilateral clefts usually occur on the left side Bilateral clefts usually involve the palate Cleft lip by itself is rare
  7. 7. OrbicularisorisOrbicularis oris -closes lips,compresses lipsagainst teeth,protrudes lips,shapes lips duringspeech
  8. 8. OrbicularisorisThe orbicularis oris musclesrun parallel to the edge ofthe cleft and inserts intothe alar margin. . There isno muscle in the prolabiumin bilateral cleft
  9. 9.  A condition in which the two plates of theskull that form the hard palate (roof of themouth) are not completely joined. Soft palate also involved Presence of cleft lip Connection of the mouth directly to thenasal cavity.
  10. 10. Note transverse orientationof levator muscle inmiddle portion ofthe soft palateThe levator musclesareorientated morelongitudinallyand insert onposterior edge ofpalatal bone andalong bony cleftmargins
  11. 11. Supernumery Teeth- 20%Dystrophic Teeth- 30%Missing Teeth- 50%Malocclusion- 100%
  12. 12.  Development of the faceFormed between the 5th and 8th weeks ofgestationCoordinated by complex morphogenetic events rapid proliferative expansionhighly susceptible to environmental and geneticfactors
  13. 13.  Results from the fusion of Two mandibular processes One frontonasal process Two maxillary processes Cleft lip occurs when the fusionprocess between the frontnasalmasses and the maxillaryprocesses is interrupted
  14. 14.  Not a major cause of mortality in developedcountries, CLP does cause considerablemorbidity to affected children and imposes asubstantial financial risk for families with aconcomitant societal burden problems with feeding speaking social integration middle ear infections which may eventuallylead to hearing loss Velopharyngeal Incompetence (VPI)
  15. 15. Components1. Velum2. Muscles in theback of the throat
  16. 16.  The velum needs tobe closed and theoral and nasalcavities separatedwhen we swallowand during theproduction of mostEnglish speechsounds
  17. 17.  At the time of birth by physical examination Recent advances --- diagnose facial clefts inutero
  18. 18. CHILD & FAMILYPSYCHOLOGISTSPEECHTHERAPISTSPECIALIST NURSEDENTISTORTHODONTISTGENETICISTENT/AUDIOLOGYSURGEON
  19. 19.  CLP can occur:Syndromic CLPNon-syndromic CLP
  20. 20.  Cleft lip with or without cleft palate --- morethan 200 specific genetic syndromes Isolated cleft palate --- more than 400syndromes Proportion of orofacial clefts associatedwith specific syndromes --- 5% and 7%.
  21. 21. Cleft Lip + Palate- 50% Cleft Palate- 30% Cleft Lip- 20%Cleft Lip + Alveolus- 5%
  22. 22.  palate Autosomal dominantdevelopmentalmalformations, deafness,and dystonia Familial gastric cancer andCLP Craniofrontonasal Roberts Holoprosencephaly ―Oro-facial-digital‖ ACTB 1 CDH1 EFNB1 ESCO2 GLI2 GLI3
  23. 23.  Hydrolethalus Van der Woude/poplitealpterygium X-linked mental retardationand CL/P Gorlin CLP – ectodermal dysplasia HYLS1 IRF6 PHF8 PTCH1 PVRL1
  24. 24.  Oculofaciocardiodental CHARGE Lethal and Escobar multiplepterygium Stickler type 1 Stickler type 2 Stickler type 3 Desmosterolosis Smith-Lemli-Opitz Miller Craniofrontonasal BCOR CHD7 CHRNG COL2A1 COL11A1 COL11A2 DHCR24 DHCR7 DHODH EFNB1
  25. 25.  Approximately 70% of cases of CLP occur asisolated entities Defects arise early in embryologicaldevelopment, have a complex etiology withboth genetic and environmentalcontributions and modest recurrence rates Specific etiologic factors----difficult
  26. 26.  A combination of: epidemiologic candidate gene genome-wide studies analysis of animal modelsprovided deeper insights into the causes of non-syndromic CLP.
  27. 27.  Advent of the genomics era-- major advancesin identifying the causative genetic mutationsunderlying syndromic forms of CLP(http://www.ncbi.nlm.nih.gov/omim) In contrast: genetic heterogeneity departure from Mendelian inheritance patterns lack of (and expense of) genomic tools necessity for very large datasetsless progress in advancing of the genetic etiologyof non-syndromic CLP
  28. 28.  Recent development of innovativeapproaches to phenotyping powerful genomic toolshas increased our understanding of non-syndromic CLP.
  29. 29.  IRF6 MAFB FGFR2 SUMO1 FOXE1 BMP4
  30. 30.  Much of the genetic variation for non-syndromic CLP -- regulatory elements Challenging to identify -- regulate genesacross substantial genomic distances Chromatin immunoprecipitation followed byNext Generation Sequence analysis -- highlysensitive method to accurately identifyenhancer elements
  31. 31.  Smoking Alcohol Steroids Hypertension treatment drugs Anticonvulsant drugs Nitrate compounds parental exposure to lead Illegal drugs (cocaine, crackcocaine, heroin, etc.) Folate deficiency Zinc deficiency Cholestrol deficiency
  32. 32.  Estimates of the main effects of genes orenvironment could be biased if interactionis not taken into account Understanding of cause and pathogenesis isenhanced by such studies Findings of interaction work can informdecisions about public health strategies
  33. 33.  Markers in the GSTT1 (glutathione S-transferase theta) or NOS3 (nitric oxidesynthase 3) --- influence risk of CL/P in thepresence of maternal smoking Smoking ----IRF6 gene Multivitamins and IRF6 Alcohol consumption--- ADH1C
  34. 34.  Hyperthermia Stress Maternal obesity Ionizing radiation Infection
  35. 35.  These are common congenital deformitiesthat often affect speech, hearing, andfeeding; and may at times lead to airwaycompromise. The otolaryngologist is a key member of thecleft palate team, and is in a unique positionto identify and manage many of theseproblems .
  36. 36.  Global approaches for the identification andranking of candidate genes Improved methods for analyzing functionalelements controlling gene expression Integration of genetic and environmental riskusing epigenetics, systems biology, geneexpression and epidemiology will both bettercharacterize etiologies, as well as provideaccess to better clinical care and prevention

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