The major congenital abnormality associated with the face is clefting of the lip and or palate which occurs with 300+ different abnormalities. A second maternal cause of facial abnormalities is exposure to alcohol or retinoic acid.
A primary cause of this "clefting" is the way in which the upper jaw forms from fusion of the smaller upper prominence of the first pharyngeal arch. The information below gives an introduction to these abnormalities, the international disease code and statistical information.
Human embryo primary palate cleft
(Carnegie stage 18 and 19, Kyoto collection)
Page Links: Introduction | Some Recent Findings | Pharyngeal Abnormalities | Cleft Lip and Palate | Cleft Lip and Palate Classification | Facial Cleft Ultrasound Movies | Cleft Lip and Palate Repair | Cleft Palate | Cleft Lip | Facial Clefts | First Arch Syndrome | Kabuki | Maternal Effects | References | Face Development | Glossary | WWW Links
Related Pages: Face Abnormalities | Fetal Alcohol Syndrome | Skull - Synostosis Abnormalities | Thyroid Abnormalities Teeth Abnormalities | Eye Abnormalities |
Byrd HS, Ha RY, Khosla RK, Gosman AA. Bilateral cleft lip and nasal repair. Plast Reconstr Surg. 2008 Oct;122(4):1181-90.
"Lip repair is performed at 3 months of age. Columellar lengthening is performed at approximately 18 months of age. A key component of this repair focuses on reconstruction of the central tubercle."
Liao YF, Mars M. Hard palate repair timing and facial growth in cleft lip and palate: a systematic review. Cleft Palate Craniofac J. 2006 Sep;43(5):563-70. Review.
Weinzweig J, Panter KE, Seki J, Pantaloni M, Spangenberger A, Harper JS. The fetal cleft palate: IV. Midfacial growth and bony palatal development following in utero and neonatal repair of the congenital caprine model. Plast Reconstr Surg. 2006 Jul;118(1):81-93.
In the model "In utero cleft palate repair does not contribute to impairment of midfacial growth. ... Cleft repair in the newborn period, or thereafter, results in midfacial growth impairment in a manner similar to that seen clinically."
Papadopulos NA, Papadopoulos MA, Kovacs L, Zeilhofer HF, Henke J, Boettcher P, Biemer E. Foetal surgery and cleft lip and palate: current status and new perspectives. Br J Plast Surg. 2005 Jul;58(5):593-607. Review.
The four different types of pharyngeal abnormalities are relatively rare.
Human embryo primary palate cleft
(Carnegie stage 16, 18 and 19, images not to scale, Kyoto collection)
Cleft lip and palate develop between the 4th and 8th week of gestation and is dominated by changes resulting in the formation of the nose. Palatal development occurs between the 7th and 12th week of gestation and is divided into the formation of the primary palate (prolabium), premaxilla and cartilaginous septum) and formation of the secondary palate (hard and soft palate).
(More? Information about Cleft Palate | Cleft Lip | left Lip Classification | Repair)
unilateral incomplete - cleft on one side of the lip that does not extend into the nose.
unilateral complete - cleft on one side of the lip that extends into the nose.
bilateral complete - cleft that involves both sides of the lip and extends into and involves the nose.
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Unilateral cleft lip and palate |
Bilateral cleft lip and palate |
Cleft palate |
A common form of facial abnormality is that of cleft lip and palate. This is associated with the way in which the maxillary processes of the first pharyngeal arch must grow and fuse. A selection of different age fetuses with clefts are linked below.
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Facial Cleft 1 Ultrasound Movie |
Facial Cleft 2 Ultrasound Movie |
Click the image or text link opens a new page with both the movie and a more detailed text description of features.
In the treatment and repair of cleft lip the following results are hopefully achieved:
The major objectives of the repair of the cleft palate includes construction of a competent, functioning and watertight valve at the junction of the soft palate and pharynx; repair is performed early enough to allow the child to begin speech with a functioning velopharyngeal valve. Presentation of normal hearing must also be maintained along with normal development and bone growth in the central facial region along with a functional and attractive dentition.
Byrd HS, Ha RY, Khosla RK, Gosman AA. Bilateral cleft lip and nasal repair. Plast Reconstr Surg. 2008 Oct;122(4):1181-90.
(More? References)
Search Pubmed Now: cleft+palate+repair | cleft+lip+repair
The following series of article refer to the development of a model and its use in cleft palate repair.
Weinzweig J, Panter KE, Pantaloni M, Spangenberger A, Harper JS, Lui F, Gardner D, Wierenga TL, Edstrom LE. The fetal cleft palate: I. Characterization of a congenital model. Plast Reconstr Surg. 1999 Feb;103(2):419-28.
Weinzweig J, Panter KE, Pantaloni M, Spangenberger A, Harper JS, Lui F, James LF, Edstrom LE. The fetal cleft palate: II. Scarless healing after in utero repair of a congenital model. Plast Reconstr Surg. 1999 Oct;104(5):1356-64.
Weinzweig J, Panter KE, Spangenberger A, Harper JS, McRae R, Edstrom LE. The fetal cleft palate: III. Ultrastructural and functional analysis of palatal development following in utero repair of the congenital model. Plast Reconstr Surg. 2002 Jun;109(7):2355-62.
Weinzweig J, Panter KE, Seki J, Pantaloni M, Spangenberger A, Harper JS. The fetal cleft palate: IV. Midfacial growth and bony palatal development following in utero and neonatal repair of the congenital caprine model. Plast Reconstr Surg. 2006 Jul;118(1):81-93.
In the model "In utero cleft palate repair does not contribute to impairment of midfacial growth. ... Cleft repair in the newborn period, or thereafter, results in midfacial growth impairment in a manner similar to that seen clinically."
Cleft palate has the International Classification of Diseases code 749.0.
In Australia the national rate (1982-1992) for this abnormalitity in births was 4.8 - 6/10,000 births, which represented 1,530 infants 5.5% were stillborn and 11.5% liveborn died during neonatal period and slightly more common in twin births than singleton.
(Data from: Congenital Malformations Australia 1981-1992 P. Lancaster and E. Pedisich ISSN 1321-8352)
Links: OMIM - Orofacial Cleft with or without cleft palate
Search Pubmed Now: cleft+palate
The International Classification of Diseases code 749.1 for isolated cleft lip and 749.2 for cleft lip with cleft palate.
In Australia the national rate (1982-1992) for this abnormalitity was 8.1 - 9.9 /10,000 births. Of 2,465 infants 6.2% were stillborn and 7.8% liveborn died during neonatal period and the rate was similar in singleton and twin births.
(Data from: Congenital Malformations Australia 1981-1992 P. Lancaster and E. Pedisich ISSN 1321-8352)
OMIM Database Entry- Cleft Lip List
Search Pubmed Now: cleft+lip
Typically facial clefts not associated with the upper lip or palate are extremely rare, but can occur in association with a number of rare syndromes.
Search Pubmed Now: facial+cleft
There are 2 major types of associated first arch syndromes, Treacher Collins (Mandibulofacial dysostosis) and Pierre Robin (Pierre Robin complex or sequence), both result in extensive facial abnormalites.
Search Pubmed Now: First Arch Syndrome | Pierre Robin Syndrome | Treacher Collins Syndrome
Links: Medline Plus - Pierre Robin Syndrome | Medline Plus - Treacher Collins Syndrome | OMIM - Pierre Robin Syndrome | OMIM - PIERRE ROBIN SYNDROME WITH CONGENITAL HEART MALFORMATION AND CLUBFOOT | OMIM - PIERRE ROBIN SYNDROME AND OLIGODACTYLY | OMIM - Pierre Robin List (23 entries found, searching for "pierre robin syndrome") | OMIM - EAR MALFORMATION
Absence of thymus and parathyroid glands
3rd and 4th pouch do not form
Disturbance of cervical neural crest migration
This syndrome name derives from the facial appearance similar to that worn by Kabuki actors (Japanese traditional theatre). A rare (about 350 cases worldwide) genetic syndrome of unknown cause giving a dysmorphic face: unusual eyes, large and low ears, depressed nasal tip, arched eyebrows, cleft lip and palate. The main feature is mental retardation and also major postnatal growth retardation, skeletal abnormalities, unusual dermatoglyphic (lines that form patterns on the skin, palms and soles) patterns and a range of other multisystem disorders.
Facial Features: long palpebral fissures with eversion of the lateral third of the lower eyelids, a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate.
Links: OMIM - Kabuki Syndrome | Kabuki Syndrome Network | Australian Kabuki Syndrome Support Site
References: Adam MP, Hudgins L. Kabuki syndrome: a review. Clin Genet. 2005 Mar;67(3):209-19.
Search Pubmed Now: Kabuki Syndrome
Retinoic Acid- present in skin ointments first identified in 1988 associated with facial developmental abnormalities.
Fetal Alcohol Syndrome
(More? UNSW Embryology - Fetal Alcohol Syndrome)
Search Pubmed Now: Fetal+Alcohol+Syndrome
Byrd HS, Ha RY, Khosla RK, Gosman AA. Bilateral cleft lip and nasal repair. Plast Reconstr Surg. 2008 Oct;122(4):1181-90.
Papadopulos NA, Papadopoulos MA, Kovacs L, Zeilhofer HF, Henke J, Boettcher P, Biemer E. Foetal surgery and cleft lip and palate: current status and new perspectives. Br J Plast Surg. 2005 Jul;58(5):593-607. Review.
Cohen M. Residual deformities after repair of clefts of the lip and palate. Clin Plast Surg. 2004 Apr;31(2):331-45. Review.
Mulliken JB, Wu JK, Padwa BL. Repair of bilateral cleft lip: review, revisions, and reflections. J Craniofac Surg. 2003 Sep;14(5):609-20. Review.
Diewert VM, Wang KY. Recent advances in primary palate and midface morphogenesis research. Crit Rev Oral Biol Med. 1992;4(1):111-30. Review.
Diewert VM. Growth movements during prenatal development of human facial morphology. Prog Clin Biol Res. 1985;187:57-66. Review.
Wilkie AO, Morriss-Kay GM. Genetics of craniofacial development and malformation. Nat Rev Genet. 2001 Jun;2(6):458-68.
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Embryo Images - palatal shelves
MedlinePlus: Cleft Lip and Palate
Australia Childrens Hospital Factsheet - Cleft Lip and Palate
The Cleft Palate-Craniofacial Journal
USA American Cleft Palate-Craniofacial Association/Cleft Palate Foundation
UK Cleft Lip & Palate Association
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The human face is one of the most unique structures with each individual having dictinctly individually recognisable features.
The formation of the face is embryologically a complicated structure undergoing continual growth and remodelling that is not "complete" until post-puberty.
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