Abnormal Development - Cleft Palate: Difference between revisions
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[[File:Cleft_palate_001.jpg]] | [[File:Cleft_palate_001.jpg]] | ||
Involving only the soft palate and uvula.<ref name=PMID22437671><pubmed>22437671</pubmed>| [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3928765 PMC3928765] | [http://dx.doi.org/10.1590/S1678-77572012000100003 J Appl Oral Sci.]</ref> | |||
===Complete Cleft Palate=== | ===Complete Cleft Palate=== | ||
[[File:Cleft_palate_002.jpg]] | [[File:Cleft_palate_002.jpg]] | ||
Completely involving the secondary palate.<ref name=PMID22437671><pubmed>22437671</pubmed>| [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3928765 PMC3928765] | [http://dx.doi.org/10.1590/S1678-77572012000100003 J Appl Oral Sci.]</ref> | |||
== Development Overview == | == Development Overview == | ||
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| {{Fetal week 10 palate movie}} | | {{Fetal week 10 palate movie}} | ||
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==Face Development== | ==Face Development== | ||
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* paired maxillary prominences - form upper cheek and upper lip | * paired maxillary prominences - form upper cheek and upper lip | ||
* paired mandibular prominences - lower cheek, chin and lower lip | * paired mandibular prominences - lower cheek, chin and lower lip | ||
===Neural Crest === | |||
* Mesenchyme invaded by neural crest generating connective tissue components | |||
* cartilage, bone, ligaments | |||
* arises from midbrain and hindbrain region | |||
===Frontonasal Process=== | ===Frontonasal Process=== | ||
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==Animal | ==Animal Models== | ||
[[File:Dog day0-cleft palate.jpg|thumb|Newborn dog with cleft palate.]] | |||
===Mouse Palate=== | ===Mouse Palate=== | ||
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:'''Links:''' [[Mouse Development]] | [[Developmental_Signals_-_Bone_Morphogenetic_Protein|Bone Morphogenetic Protein]] | [[Developmental Signals - Wnt|Wnt]] | [[Developmental_Signals_-_Pax|Pax]] | :'''Links:''' [[Mouse Development]] | [[Developmental_Signals_-_Bone_Morphogenetic_Protein|Bone Morphogenetic Protein]] | [[Developmental Signals - Wnt|Wnt]] | [[Developmental_Signals_-_Pax|Pax]] | ||
==Molecular== | ==Molecular== | ||
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'''Links:''' | '''Links:''' [http://www.ncbi.nlm.nih.gov/omim/119530 OMIM Orofacial Cleft with or without cleft palate] | ||
==Cleft Risk Variants== | ==Cleft Risk Variants== | ||
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==Terms== | ==Terms== | ||
* '''cleft''' - An anatomical gap or space occuring in abnormal development in or between structures. Most commonly associated with cleft lip and cleft palate. Term is also used to describe the external groove that forms between each pharyngeal arch during their formation. | * '''cleft''' - An anatomical gap or space occuring in abnormal development in or between structures. Most commonly associated with cleft lip and cleft palate. Term is also used to describe the external groove that forms between each pharyngeal arch during their formation. | ||
* '''cleft lip''' - An abnormality of face development leading to an opening in the upper lip. Clefting of the lip and or palate occurs with 300+ different abnormalities. Depending on many factors, this cleft may extend further into the oral cavity leading to a cleft palate. In most cases clefting of the lip and palate can be repaired by surgery. | * '''cleft lip''' - An abnormality of face development leading to an opening in the upper lip. Clefting of the lip and or palate occurs with 300+ different abnormalities. Depending on many factors, this cleft may extend further into the oral cavity leading to a cleft palate. In most cases clefting of the lip and palate can be repaired by surgery. | ||
* '''cleft palate''' - An abnormality of face development leading to an opening in the [[P#palate|palate]], the roof of the oral cavity between the mouth and the nose. Clefting of the lip and or palate occurs with 300+ different abnormalities. In most cases clefting of the lip and palate can be repaired by surgery. Palate formation in the embryo occurs at two distinct times and developmental processes called primary and secondary palate formation. This leads to different forms (classifications) and degrees of clefting. | * '''cleft palate''' - An abnormality of face development leading to an opening in the [[P#palate|palate]], the roof of the oral cavity between the mouth and the nose. Clefting of the lip and or palate occurs with 300+ different abnormalities. In most cases clefting of the lip and palate can be repaired by surgery. Palate formation in the embryo occurs at two distinct times and developmental processes called primary and secondary palate formation. This leads to different forms (classifications) and degrees of clefting. | ||
* '''epithelial mesenchymal transition''' - (EMT, epitheliomesenchymal transformation) conversion of an epithelium into a mesenchymal (connective tissue) cellular organization. | * '''epithelial mesenchymal transition''' - (EMT, epitheliomesenchymal transformation) conversion of an epithelium into a mesenchymal (connective tissue) cellular organization. | ||
* '''epitheliomesenchymal transformation''' - (epithelial mesenchymal transition) conversion of an epithelium into a mesenchymal (connective tissue) cellular organization. | * '''epitheliomesenchymal transformation''' - (epithelial mesenchymal transition) conversion of an epithelium into a mesenchymal (connective tissue) cellular organization. | ||
* '''medial edge epithelial''' - (MEE) opposing palatal shelves adhere to each other to form this epithelial seam. | * '''medial edge epithelial''' - (MEE) opposing palatal shelves adhere to each other to form this epithelial seam. | ||
* '''palate''' - The roof of the mouth (oral cavity) a structure which separates the oral from the nasal cavity. Develops as two lateral palatal shelves which grow and fuse in the midline. Initally a primary palate forms with fusion of the maxillary processes with the nasal processes in early face formation. Later the secondary palate forms the anterior [[H#hard_palate|hard palate]] which will ossify and separate the oral and nasal cavities. The posterior part of the palate is called the soft palate (velum, muscular palate) and contains no bone. Abnormalities of palatal shelf fusion can lead to [[C#cleft_palate|cleft palate]]. | * '''palate''' - The roof of the mouth (oral cavity) a structure which separates the oral from the nasal cavity. Develops as two lateral palatal shelves which grow and fuse in the midline. Initally a primary palate forms with fusion of the maxillary processes with the nasal processes in early face formation. Later the secondary palate forms the anterior [[H#hard_palate|hard palate]] which will ossify and separate the oral and nasal cavities. The posterior part of the palate is called the soft palate (velum, muscular palate) and contains no bone. Abnormalities of palatal shelf fusion can lead to [[C#cleft_palate|cleft palate]]. | ||
* '''palatogenesis''' - The process of palate formation, divided into primary and secondary palate development. | * '''palatogenesis''' - The process of palate formation, divided into primary and secondary palate development. | ||
* '''pharyngeal arch''' - ([[B#branchial arch|branchial arch]], Greek, ''branchial'' = gill) These are a series of externally visible anterior tissue bands lying under the early brain that give rise to the structures of the head and neck. In humans, five arches form (1,2,3,4 and 6) but only four are externally visible on the [[E#embryo|embryo]]. Each arch has initially identical structures: an internal endodermal pouch, a mesenchymal ([[M#mesoderm|mesoderm]] and [[N#neural crest|neural crest]]) core, a membrane ([[E#endoderm|endoderm]] and [[E#ectoderm|ectoderm]]) and external cleft ([[E#ectoderm|ectoderm]]). Each arch mesenchymal core also contains similar components: blood vessel, nerve, muscular, cartilage. Each arch though initially formed from similar components will differentiate to form different head and neck structures. | * '''pharyngeal arch''' - ([[B#branchial arch|branchial arch]], Greek, ''branchial'' = gill) These are a series of externally visible anterior tissue bands lying under the early brain that give rise to the structures of the head and neck. In humans, five arches form (1,2,3,4 and 6) but only four are externally visible on the [[E#embryo|embryo]]. Each arch has initially identical structures: an internal endodermal pouch, a mesenchymal ([[M#mesoderm|mesoderm]] and [[N#neural crest|neural crest]]) core, a membrane ([[E#endoderm|endoderm]] and [[E#ectoderm|ectoderm]]) and external cleft ([[E#ectoderm|ectoderm]]). Each arch mesenchymal core also contains similar components: blood vessel, nerve, muscular, cartilage. Each arch though initially formed from similar components will differentiate to form different head and neck structures. | ||
* '''philtrum''' - ([[I#infranasal depression|infranasal depression]], Greek, ''philtron'' = "to love" or "to kiss") Anatomically the surface midline vertical groove in the upper lip. Embryonically formed by the fusion of the [[F#frontonasal prominence|frontonasal prominence]] (FNP) with the two [[M#maxillary process|maxillary processes]] of the first [[P#pharyngeal arch|pharyngeal arch]]. [[C#cleft palate|Cleft palate]] (primary palate) occurs if these three regions fail to fuse during development. [[F#fetal alcohol syndrome|Fetal alcohol syndrome]] is also indicated by flatness and extension of this upper lip region. | * '''philtrum''' - ([[I#infranasal depression|infranasal depression]], Greek, ''philtron'' = "to love" or "to kiss") Anatomically the surface midline vertical groove in the upper lip. Embryonically formed by the fusion of the [[F#frontonasal prominence|frontonasal prominence]] (FNP) with the two [[M#maxillary process|maxillary processes]] of the first [[P#pharyngeal arch|pharyngeal arch]]. [[C#cleft palate|Cleft palate]] (primary palate) occurs if these three regions fail to fuse during development. [[F#fetal alcohol syndrome|Fetal alcohol syndrome]] is also indicated by flatness and extension of this upper lip region. | ||
* '''T-box 22''' - (TBX22) a transcription factor that cause X-linked cleft palate and ankyloglossia in humans. Tbx22 is induced by [[F#fibroblast growth factor|fibroblast growth factor 8]] (FGF8) in the early face while [[B#bone morphogenic protein|bone morphogenic protein 4]] (BMP4) represses and therefore restricts its expression. (More? [http://www.ncbi.nlm.nih.gov/omim/300307 OMIM - TBX22]) | * '''T-box 22''' - (TBX22) a transcription factor that cause X-linked cleft palate and ankyloglossia in humans. Tbx22 is induced by [[F#fibroblast growth factor|fibroblast growth factor 8]] (FGF8) in the early face while [[B#bone morphogenic protein|bone morphogenic protein 4]] (BMP4) represses and therefore restricts its expression. (More? [http://www.ncbi.nlm.nih.gov/omim/300307 OMIM - TBX22]) | ||
* '''Transforming Growth Factor-beta''' - (TGFβ) factors induces both epithelial mesenchymal transition and/or apoptosis during palatal medial edge seam disintegration. | |||
==External Links== | ==External Links== |
Revision as of 17:25, 17 May 2014
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Introduction
[International Classification of Diseases (ICD-10) - Q35 Cleft palate Incl.: fissure of palate palatoschisis Excl.: cleft palate with cleft lip (Q37.-)
The palate anatomically separates the nasal cavity from the oral cavity and structurally has a bony (hard) anterior component and a muscular (soft) posterior component ending with the uvula. The oral side of the palate is covered with a squamous stratified (pluristratified) epithelium. The surface of the hard palate of most mammalian species is further thrown into a series of transversal palatal ridges or rugae palatinae. Both the palatal ridge number and arrangement are also species specific.
Neural crest has a major contribution to the palate development and there are a number of molecular, mechanical and morphological steps in involving the fusion of contributing structures including a key epithelial to mesenchymal transition. In palate formation there are two main and separate times and events of development, during embryonic (primary palate) and an early fetal (secondary palate). This separation of events into embryonic and fetal period corresponds closely to the classification of associated palate abnormalities.
The primary palate is formed by two parts:
- maxillary components of the first pharyngeal arch (lateral)
- frontonasal prominence (midline)
The secondary palate can also be divided in two anatomical parts:
- anterior hard palate - ossified (contributions from the maxilla and palatine bones).
- posterior soft palate - muscular.
Palate Links: palate | cleft lip and palate | cleft palate | head | Category:Palate |
Some Recent Findings
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More recent papers |
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This table allows an automated computer search of the external PubMed database using the listed "Search term" text link.
More? References | Discussion Page | Journal Searches | 2019 References | 2020 References Search term: Cleft Palate <pubmed limit=5>Cleft Palate</pubmed> |
Textbooks
- The Developing Human: Clinically Oriented Embryology (8th Edition) by Keith L. Moore and T.V.N Persaud - Moore & Persaud Chapter Chapter 10 The Pharyngeal Apparatus pp201 - 240.
- Larsen’s Human Embryology by GC. Schoenwolf, SB. Bleyl, PR. Brauer and PH. Francis-West - Chapter 12 Development of the Head, the Neck, the Eyes, and the Ears pp349 - 418.
Movies
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- Links: Movies | Ultrasound
Clinical Images
Incomplete Cleft Palate
Involving only the soft palate and uvula.[6]
Complete Cleft Palate
Completely involving the secondary palate.[6]
Development Overview
- week 4 - pharyngeal arch formation, first pharngeal arch contributes mandible and maxilla.
- week 6 - 7 - primary palate formation maxillary processes and frontonasal prominence.
- week 9 - secondary palate shelves fuse, separating oral and nasal cavities.
Embryonic Period
- (week 4) - pharyngeal arch formation in rostrocaudal sequence (1, 2, 3, 4 and 6)
- First pharyngeal arch - upper maxillary (pair) and lower mandibular prominences
- Late embryonic period - maxillary prominences fuse with frontonasal prominence forming upper jaw (maxilla and upper lip)
Fetal Period
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Face Development
Begins week 4 centered around stomodeum, external depression at oral membrane
5 initial primordia from neural crest mesenchyme
- single frontonasal prominence (FNP) - forms forehead, nose dorsum and apex
- nasal placodes develop later bilateral, pushed medially
- paired maxillary prominences - form upper cheek and upper lip
- paired mandibular prominences - lower cheek, chin and lower lip
Neural Crest
- Mesenchyme invaded by neural crest generating connective tissue components
- cartilage, bone, ligaments
- arises from midbrain and hindbrain region
Frontonasal Process
The frontonasal process (FNP) forms the majority of the superior part of the early face primordia. It later fuses with the maxillary component of the first pharyngeal arch to form the upper jaw. Failure of this fusion event during the embryonic period leads to cleft lip. Under the surface ectoderm the process mesenchyme consists of two cell populations; neural crest cells, forming the connective tissues; and the mesoderm forming the endothelium of the vascular network.
A chicken developmental model study has identified a specific surface region, the Frontonasal Ectodermal Zone (FEZ), initially induced by bone morphogenetic proteins that appears to regulate the future growth and patterning of the frontonasal process. The specific frontonasal ectodermal zone was located in the frontonasal process ectoderm flanking a boundary between Sonic hedgehog (Shh) and Fibroblast growth factor 8 (Fgf8) expression domains.[7]
Embryonic Palate
Human primary palate
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- EM Links: Image - stage 16 | Image - stage 17 | Image - stage 18 | Image - stage 19 | Palate Development
Fetal Palate
Secondary palate, fusion in the human embryo in week 9. This requires the early palatal shelves growth, elevation, and fusion. There are many fusion events occurring during this period between each palatal shelf, to the primary palate, and also to the nasal septum.
palatal shelf elevation | secondary palate
Ventral aspect of hard palate of human embryo of 80 mm
Head Growth
- continues postnatally - fontanelle allow head distortion on birth and early growth
- bone plates remain unfused to allow growth, puberty growth of face
Animal Models
Mouse Palate
- E11 - protrude from bilateral maxillary processes
- E12.5 - secondary palatal development begins
- E12.5-E14 - grow vertically along the developing tongue
- E14.5 - they elevate, meet, and fuse at the midline, to form an intact palate shelf, reflex opening and closing movements of the mouth
- E15.5 - palatal fusion is complete, mesenchymal condensation followed by osteogenic differentiation occurs.
Mouse (E13.5) Palatal Shelf Wnt5a, Osr2 and Pax9 Expression.[9]
Mouse ruga pattern (E16) | Mouse - Spry1 cleft palate |
- Links: Mouse Development | Bone Morphogenetic Protein | Wnt | Pax
Molecular
- Links: Bone Morphogenetic Protein
Abnormalities
The way in which the upper jaw forms from fusion of the smaller upper prominence of the first pharyngeal arch leads to a common congenital defect in this region called "clefting", which may involve either the upper lip, the palate or both structures.
Australian Palate Abnormalities (2002-2003) |
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Cleft lip with or without cleft palate (9.2 per 10,000 births) ICD-10 Q36.0, Q36.1, Q36.9, Q37.0–Q37.5, Q37.8, Q37.9 |
A congenital anomaly characterised by a partial or complete clefting of the upper lip, with or without clefting of the alveolar ridge or the hard palate. Excludes a midline cleft of the upper or lower lip and an oblique facial fissure (going towards the eye).
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Cleft palate without cleft lip (8.1 per 10,000 births) ICD-10 Q35.0–Q35.9 |
A congenital anomaly characterised by a closure defect of the hard and/or soft palate behind the foramen incisivum without a cleft lip. This anomaly includes sub-mucous cleft palate, but excludes cleft palate with a cleft lip, a functional short palate and high narrow palate.
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International Classification of Diseases - Cleft Palate
Cleft lip and cleft palate (Q35-Q37)
Use additional code (Q30.2), if desired, to identify associated malformations of the nose. Excludes Robin's syndrome ( Q87.0 )
Q37 | Cleft palate with cleft lip |
Q37.0 | Cleft hard palate with bilateral cleft lip |
Q37.1 | Cleft hard palate with unilateral cleft lip |
Cleft hard palate with cleft lip NOS | |
Q37.2 | Cleft soft palate with bilateral cleft lip |
Q37.3 | Cleft soft palate with unilateral cleft lip |
Cleft soft palate with cleft lip NOS | |
Q37.4 | Cleft hard and soft palate with bilateral cleft lip |
Q37.5 | Cleft hard and soft palate with unilateral cleft lip |
Cleft hard and soft palate with cleft lip NOS | |
Q37.8 | Unspecified cleft palate with bilateral cleft lip |
Q37.9 | Unspecified cleft palate with unilateral cleft lip |
Cleft palate with cleft lip NOS |
Embryonic Human Cleft Palate
Stage16 (ventral view) |
Cleft Palate
(Data: Congenital Malformations Australia 1981-1992 P. Lancaster and E. Pedisich ISSN 1321-8352)
Cleft Risk VariantsTwo genes were identified from a recent genome-wide study.[4]
Ten most frequently reported Birth Anomalies
(From the Victorian Perinatal Data Collection Unit in the Australian state of Victoria between 2003-2004)
FolateA recent study of periconceptional folate supplementation using the Cochrane Pregnancy and Childbirth Group's Trials Register (July 2010) identified no statistically significant evidence of any effects on prevention of cleft palate and cleft lip at birth.[13] References
Journals
ReviewsIndian J Plast Surg. 2009 October; 42(Suppl):Cleft Lip and Palate Issue <pubmed>22186724</pubmed> <pubmed>19131313</pubmed> <pubmed>16962647</pubmed> <pubmed>3074914</pubmed> <pubmed>8714286</pubmed> Articles<pubmed></pubmed> <pubmed></pubmed> <pubmed></pubmed> <pubmed>20149609</pubmed> <pubmed>19341725</pubmed> Search PubMedSearch Pubmed: palate development | cleft palate development | Additional ImagesHistoricTerms
External LinksExternal Links Notice - The dynamic nature of the internet may mean that some of these listed links may no longer function. If the link no longer works search the web with the link text or name. Links to any external commercial sites are provided for information purposes only and should never be considered an endorsement. UNSW Embryology is provided as an educational resource with no clinical information or commercial affiliation.
Glossary Links
Cite this page: Hill, M.A. (2024, April 27) Embryology Abnormal Development - Cleft Palate. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Abnormal_Development_-_Cleft_Palate
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