Abnormal Development - Cleft Palate
Embryology - 26 Apr 2024 Expand to Translate |
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Educational Use Only - Embryology is an educational resource for learning concepts in embryological development, no clinical information is provided and content should not be used for any other purpose. |
Introduction
International Classification of Diseases (ICD-10) - Q35 Cleft palate Incl.: fissure of palate palatoschisis Excl.: cleft palate with cleft lip (Q37.-)
Cleft palate has many different causes and in humans occurs more frequently in females (57%) than in males (43%).[1] 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
- maxilla
- palatine bones
- posterior soft palate - muscular
- tensor veli palatini (swallowing)
- palatoglossus (swallowing)
- palatopharyngeus (breathing)
- levator veli palatini (swallowing)
- musculus uvulae (uvula movement)
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.[7]
Complete Cleft Palate
Completely involving the secondary palate.[7]
Surgical repair of the palate (palatoplasty).[7]
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 |
Veau Classification
The historic Veau System (1931)[8] classifies orofacial clefting into four classes (Veau Class I - IV) according to whether the secondary and/or primary palates are affected and by laterality.
- Incomplete cleft, soft palate only (no unilateral/bilateral designation)
- Hard and soft palate, secondary palate only (no unilateral/bilateral designation)
- Complete unilateral cleft including lip (primary and secondary palates)
- Complete bilateral cleft
Cleft Palate Genetics
Cleft Palate Only Genes[10] | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Links: OMIM Orofacial Cleft with or without cleft palate
Statistics
- 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)
Australian Palate Abnormalities (2002-2003)[12] |
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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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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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Ten most frequently reported Birth Anomalies
- Hypospadias (More? Male movie | Genital Abnormalities - Hypospadia)
- Obstructive Defects of the Renal Pelvis (More? Renal System - Abnormalities)
- Ventricular Septal Defect (More? Cardiovascular Abnormalities - Ventricular Septal Defect)
- Congenital Dislocated Hip (More? Musculoskelal Abnormalities - Congenital Dislocation of the Hip (CDH))
- Trisomy 21 or Down syndrome - (More? Trisomy 21)
- Hydrocephalus (More? Hydrocephalus)
- Cleft Palate (More? Palate_Development)
- Trisomy 18 or Edward Syndrome - multiple abnormalities of the heart, diaphragm, lungs, kidneys, ureters and palate 86% discontinued (More? (More? Trisomy 18)
- Renal Agenesis/Dysgenesis - reduction in neonatal death and stillbirth since 1993 may be due to the more severe cases being identified in utero and being represented amongst the increased proportion of terminations (approximately 31%). (More? Renal System - Abnormalities)
- Cleft Lip and Palate - occur with another defect in 33.7% of cases.(More? Palate Development | Head Development)
(From the Victorian Perinatal Data Collection Unit in the Australian state of Victoria between 2003-2004)
Cleft Risk Variants - Two genes were identified from a recent genome-wide study.[5]
- MAFB is expressed in the mouse palatal shelf.
- ABCA4 is a member of a superfamily of transmembrane proteins, and mutations in ABCA4 play a major role in the etiology of Stargardt disease and related retinopathies. Gene produces an ATP-binding cassette (ABC) superfamily trans-membrane protein
- Links: OMIM - MAFB | 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.[13]
Cleft Palate Repair
Surgical repair of the palate is described as palatoplasty and is often carried out between 6 to 12 months of age but also during later periods (12 to 18 months). In developing countries, this may be repaired significantly later in childhood or even go unprepared.
Surgical Repair Techniques
Some Types of Surgical Repair Techniques[14]
- von Langenbeck's bipedicle flap technique
- Veau-Wardill-Kilner Pushback technique
- Bardach's two-flap technique
- Furlow Double opposing Z-Plasty
- Two-stage palatal repair
- Hole in one repair
- Raw area free palatoplasty
- Alveolar extension palatoplasty (AEP)
- Primary pharyngeal flap
- Intravelar veloplasty
- Vomer flap
- Buccal myomucosal flap
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.[15]
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
Head Growth
- continues postnatally - fontanelle allow head distortion on birth and early growth
- bone plates remain unfused to allow growth, puberty growth of face
Adult
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.[17]
Mouse ruga pattern (E16) | Mouse - Spry1 cleft palate |
Cleft palate in newborn mice.[18]
- Links: Mouse Development | Bone Morphogenetic Protein | Wnt | Pax
Molecular
- Links: Bone Morphogenetic Protein
References
- ↑ <pubmed>24179449</pubmed>
- ↑ <pubmed>23613893</pubmed>| PLoS One.
- ↑ <pubmed>22022457</pubmed>| PLoS One.
- ↑ <pubmed>21246652</pubmed>
- ↑ 5.0 5.1 <pubmed>20436469</pubmed>
- ↑ <pubmed>17693063</pubmed>
- ↑ 7.0 7.1 7.2 7.3 <pubmed>22437671</pubmed>| PMC3928765 | J Appl Oral Sci.
- ↑ Veau V. Paris: Masson & Cie; Division Palatine. (1931).
- ↑ <pubmed>20537182</pubmed>| Orphanet J Rare Dis.
- ↑ <pubmed>21331089</pubmed>
- ↑ P. Lancaster and E. Pedisich, Congenital Malformations Australia 1981-1992, ISSN 1321-835.
- ↑ Abeywardana S & Sullivan EA 2008. Congenital Anomalies in Australia 2002-2003. Birth anomalies series no. 3 Cat. no. PER 41. Sydney: AIHW National Perinatal Statistics Unit.
- ↑ <pubmed>20927767</pubmed>
- ↑ <pubmed>19884664</pubmed>
- ↑ <pubmed>18028903</pubmed>
- ↑ <pubmed>8227288</pubmed>
- ↑ <pubmed>24433583</pubmed>| BMC Dev Biol.
- ↑ <pubmed>20808828</pubmed>| PMC2924885 | PLoS One.
Journals
- The Cleft Palate-Craniofacial Journal Homepage | Available issues
Reviews
Indian J Plast Surg. 2009 October; 42(Suppl):Cleft Lip and Palate Issue
<pubmed>26322171</pubmed> <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 PubMed
Search Pubmed: palate development | cleft palate development |
Additional Images
Historic
Terms
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External Links
External 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.
- Prof Virginia Diewert - Professor of Orthodontics, University of British Columbia, who recently visited the Lab and helped with content, organisation and development of the Palate Development section.
- Medline Plus - Cleft Lip and Palate
- Better Health Channel - Cleft palate and cleft lip
- March of Dimes Birth Defects Foundation - Cleft Palate
Glossary Links
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Cite this page: Hill, M.A. (2024, April 26) Embryology Abnormal Development - Cleft Palate. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Abnormal_Development_-_Cleft_Palate
- © Dr Mark Hill 2024, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G