Abnormal Development - Cleft Palate: Difference between revisions
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== Textbooks == | == Textbooks == | ||
[[File: | [[File:Stage16_cleft_palate.jpg|thumb|Embryonic Human Cleft Palate Stage16 (ventral view)]] | ||
* '''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. | * '''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. | * '''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. | ||
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:'''Links:''' [[Movies]] | [[Ultrasound]] | :'''Links:''' [[Movies]] | [[Ultrasound]] | ||
==Clinical Images== | ==Clinical Images== | ||
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Surgical repair of the palate (palatoplasty).<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> | Surgical repair of the palate (palatoplasty).<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> | ||
==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 ) | |||
{| | {| | ||
| width="100px"| '''Q37''' | | width="100px"| '''Q37''' | ||
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== | ==Cleft Palate Genetics== | ||
[[File:Cleft_palate_02.jpg|thumb|An 8 month old infant with an extensive cleft palate associated with Bamforth- Lazarus syndrome.<ref><pubmed>20537182</pubmed>| [http://www.ojrd.com/content/5/1/17 Orphanet J Rare Dis.]</ref>]] | [[File:Cleft_palate_02.jpg|thumb|An 8 month old infant with an extensive cleft palate associated with Bamforth- Lazarus syndrome.<ref><pubmed>20537182</pubmed>| [http://www.ojrd.com/content/5/1/17 Orphanet J Rare Dis.]</ref>]] | ||
{| | |||
{| | |||
! Cleft Palate Only Genes<ref name=PMID21331089><pubmed>21331089</pubmed></ref> | ! Cleft Palate Only Genes<ref name=PMID21331089><pubmed>21331089</pubmed></ref> | ||
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'''Links:''' [http://www.ncbi.nlm.nih.gov/omim/119530 OMIM Orofacial Cleft with or without cleft palate] | |||
==Statistics== | |||
{| | |||
| [[File:cleft_palate.jpg|200px|Cleft palate]] | |||
| | |||
* International Classification of Diseases code 749.0 | |||
* Australian national rate (1982-1992) 4.8 - 6 /10,000 births. | |||
* Of 1,530 infants 5.5% were stillborn and 11.5% liveborn died during neonatal period. | |||
* slightly more common in twin births than singleton. | |||
(Data: Congenital Malformations Australia 1981-1992 P. Lancaster and E. Pedisich ISSN 1321-8352) | |||
[[File:Australian abnormalities 81-92 git.jpg|thumb|350px|Cleft Palate - Australia (1981-1992)<ref>P. Lancaster and E. Pedisich, '''Congenital Malformations Australia''' 1981-1992, ISSN 1321-835.</ref>]] | |||
{{Australian Palate abnormalities 2002-2003}} | |||
{{10Victorian Anomalies03-04}} | |||
Two genes were identified from a recent genome-wide study.<ref name="PMID20436469" /> | |||
Cleft Risk Variants - Two genes were identified from a recent genome-wide study.<ref name="PMID20436469" /> | |||
* '''MAFB''' is expressed in the mouse palatal shelf. | * '''MAFB''' is expressed in the mouse palatal shelf. | ||
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:'''Links:''' [http://www.ncbi.nlm.nih.gov/omim/608968 OMIM - MAFB] | [http://www.ncbi.nlm.nih.gov/omim/601691 OMIM - ABCA4] | |||
Folate - A 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.<ref><pubmed>20927767</pubmed></ref> | |||
:'''Links:''' [ | == 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) | |||
<gallery> | |||
File:Stage16 em01.jpg|Week 5 [[:File:Stage16 em01.jpg|Stage 16]] | |||
File:Stage17 em01.jpg|Week 6 [[:File:Stage17 em01.jpg|Stage 17]] | |||
File:Stage18 em01.jpg|Week 6.5 [[:File:Stage18 em01.jpg|Stage 18]] | |||
File:Stage19 em01.jpg|Week 7 [[:File:Stage19 em01.jpg|Stage 19]] | |||
</gallery> | |||
===Fetal Period=== | |||
{| | |||
| | |||
* palatal shelves elevation | |||
* palatal shelves midline fusion | |||
| {{Fetal week 10 palate movie}} | |||
|} | |||
==Face Development== | |||
[[File:Stage16-18 face animation.gif|left]] | |||
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.<ref><pubmed>18028903</pubmed></ref> | |||
== Embryonic Palate== | |||
{| | |||
| | |||
Human primary palate | |||
* develops between embryonic stages 15 and 18.<ref><pubmed>8227288</pubmed></ref> | |||
* fusion in the human embryo between stage 17 and 18, from an epithelial seam to the mesenchymal bridge. | |||
| [[File:Stage17-18 Primary palate.gif]] | |||
|} | |||
<gallery> | |||
File:Stage16 em01.jpg|Week 5 [[:File:Stage16 em01.jpg|Stage 16]] | |||
File:Stage17 em01.jpg|Week 6 [[:File:Stage17 em01.jpg|Stage 17]] | |||
File:Stage18 em01.jpg|Week 6.5 [[:File:Stage18 em01.jpg|Stage 18]] | |||
File:Stage19 em01.jpg|Week 7 [[:File:Stage19 em01.jpg|Stage 19]] | |||
</gallery> | |||
:'''EM Links:''' [[:File:Stage16 em01.jpg|Image - stage 16]] | [[:File:Stage17 em01.jpg|Image - stage 17]] | [[:File:Stage18 em01.jpg|Image - stage 18]] | [[:File:Stage19 em01.jpg|Image - stage 19]] | [[Palate Development]] | |||
==Fetal Palate== | |||
Secondary palate, fusion in the human embryo in [[Week 9|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. | |||
[[:File:Palatal shelves animation.gif|palatal shelf elevation]] | [[:File:palate.gif|secondary palate]] | |||
<gallery> | |||
File:Fetal week 10 hard palate 04.jpg|Hard and soft palate | |||
File:Fetal_week_10_hard_palate_05.jpg|hard palate | |||
File:Fetal week 10 hard palate 07.jpg|hard palate labeled | |||
File:Fetal week 10 soft palate 01.jpg|soft palate | |||
File:Fetal_week_10_soft_palate_03.jpg|soft palate labeled | |||
File:Fetal week 10 hard palate 03.jpg|Detail - hard and soft palate junction | |||
File:Fetal week 10 hard palate 02.jpg|Detail - hard palate seam | |||
</gallery> | |||
==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== | |||
[[File:Dog day0-cleft palate.jpg|thumb|Newborn dog with cleft palate.]] | |||
===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. | |||
[[File:Mouse_palate_gene_expression_01.jpg|600px]] | |||
Mouse (E13.5) Palatal Shelf Wnt5a, Osr2 and Pax9 Expression.<ref name=PMID24433583><pubmed>24433583</pubmed>| [http://www.biomedcentral.com/1471-213X/14/3 BMC Dev Biol.]</ref> | |||
<gallery> | |||
File:Mouse E13.5 Bmp7 palate 1.jpg|Image - Mouse E13.5 Bmp7 palate | |||
File:Mouse E13.5 Bmp7 palate 2.jpg|Image - palate | |||
File:Mouse E13.5 Bmp7 palate 3.jpg|Image - palate detail | |||
</gallery> | |||
{| | |||
| [[File:Mouse_ruga_pattern.jpg|300px]] | |||
| [[File:Mouse_-_Spry1_cleft_palate.jpg|300px]] | |||
|- | |||
| Mouse ruga pattern (E16) | |||
| Mouse - Spry1 cleft palate | |||
|} | |||
:'''Links:''' [[Mouse Development]] | [[Developmental_Signals_-_Bone_Morphogenetic_Protein|Bone Morphogenetic Protein]] | [[Developmental Signals - Wnt|Wnt]] | [[Developmental_Signals_-_Pax|Pax]] | |||
==Molecular== | |||
<gallery> | |||
File:Mouse - palate MMP-25 expression.jpg|MMP25 PMID 20809987 | |||
File:Mouse E13.5 Bmp7 palate 1.jpg|Image - Mouse E13.5 Bmp7 palate PMID 23516636 | |||
File:Mouse E13.5 Bmp7 palate 2.jpg|Image - palate Bmp7 palate PMID 23516636 | |||
File:Mouse E13.5 Bmp7 palate 3.jpg|Image - palate detail Bmp7 palate PMID 23516636 | |||
</gallery> | |||
:'''Links:''' [[Developmental_Signals_-_Bone_Morphogenetic_Protein|Bone Morphogenetic Protein]] | |||
== References == | == References == |
Revision as of 16:58, 18 May 2014
Embryology - 17 Jun 2024 Expand to Translate |
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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]
Surgical repair of the palate (palatoplasty).[6]
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 |
Cleft Palate Genetics
Cleft Palate Only Genes[8] | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Links: OMIM Orofacial Cleft with or without cleft palate
Statistics
(Data: Congenital Malformations Australia 1981-1992 P. Lancaster and E. Pedisich ISSN 1321-8352)
Ten most frequently reported Birth Anomalies
(From the Victorian Perinatal Data Collection Unit in the Australian state of Victoria between 2003-2004)
Development Overview
Embryonic Period
Fetal Period
Face DevelopmentBegins week 4 centered around stomodeum, external depression at oral membrane 5 initial primordia from neural crest mesenchyme
Neural Crest
Frontonasal ProcessThe 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.[11] Embryonic Palate
Fetal PalateSecondary 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 Head Growth
Animal ModelsMouse Palate
Mouse (E13.5) Palatal Shelf Wnt5a, Osr2 and Pax9 Expression.[13]
Molecular
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, June 17) Embryology Abnormal Development - Cleft Palate. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Abnormal_Development_-_Cleft_Palate
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