Cleft lip and clip palate is an "umbrella term" for a heterogeneous collection of orofacial clefts. It includes clefting of the upper lip, the maxillary alveolus (dental arch), and the hard or soft palate, in various combinations. The anatomic combinations include: [1]
Embryologically, the upper lip may become clefted in the center (a median cleft lip) or on one or both sides (a paramedian cleft lip). The paramedian form is more common, and the median cleft lip is exceedingly rare. Most classification schemes consider only paramedian cleft lip to fall under the CL/P grouping, although this has been the subject of some controversy. (Many consider the median cleft lip to be better grouped under the Tessier classification for atypical orofacial clefts, with median cleft lip representing a Tessier 0 cleft.) The typical paramedian cleft lip may affect one side (unilateral) or both sides (bilateral). A unilateral cleft lip is much more common.
Clefting of the maxillary alveolus tends to accompany the cleft of the lip, and thus may affect the center (with a median cleft lip) or one or both sides (in unilateral or bilateral paramedian cleft lip, respectively).
Cleft palate does not have laterality in the same sense that the cleft lip does. Rather, there are certain morphologic forms of cleft palate (described succinctly by the Veau classification, as explained in detail below). An isolated cleft of the palate (whether Veau-I soft palate only or Veau-II hard and soft palate) is a "midline" cleft. A Veau-III cleft may be considered "unilateral," as it is contiguous with a unilateral cleft lip. A Veau-IV cleft may be considered "midline" or "bilateral" as it is contiguous with a bilateral cleft lip. Due to the confusion regarding laterality of the palate, usage of the terms "midline," "unilateral," and "bilateral" should be discouraged in favor of more accurate morphologic descriptions.
The clefting of the lip may be complete, incomplete, or lesser-form, with the lesser-form clefts being further subdivided into minor-form, microform, and mini-microform. A bilateral cleft lip may feature the same degree of clefting on each side (and thus be symmetric bilateral cleft lip) or may differ from side-to-side (asymmetric bilateral cleft lip). The severity of the cleft lip informs the choice for operative repair.
The clefting of the palate is most usefully described by the Veau classification:
In addition to these four types, there exists a submucous cleft palate. In the submucous cleft palate, the palate appears grossly intact, without an obvious cleft. However, deep to the intact mucosa, there may be a separation of the levator palatini muscles, and thus palatal function is affected. Subtle signs of submucous cleft palate may include the zona pellucida (a pale coloring of the midline of the palate, indicative of a submucous bony defect), notching of the hard palate at its posterior edge, and bifid uvula. Some clinicians make the distinction between overt submucous cleft palate (in which these signs are present) and occult submucous cleft palate, in which case they may not be appreciable, but the levator musculature is in fact clefted.
Another method of morphologic description of the palate is the Randall classification, which describes palatal length (Randall class I being the normal length and class IV being severely short). Several studies have shown a correlation between Randall classification and future speech quality after palatal repair; however, the utility of the Randall classification is contested as being too subjective and having poor inter-rater reliability.
Various forms of pictographic notation have been developed to illustrate the exact anatomic involvement, as well as severity. The most popular of these diagrams was developed by Kernahan and was called the "striped-Y diagram." It was commonly used in the era of paper-based medical records, but its usage has diminished considerably with the advent of electronic health records (EHR). Examples of various forms of pictographic notation are available.[ citation needed ]
LAHSHAL is a palindrome representing the anatomic structures, proceeding from the patient's right side toward left side:
L | A | H | S | H | A | L |
---|---|---|---|---|---|---|
right lip | right alveolus | right hard palate | midline soft palate | left hard palate | left alveolus | left lip |
In the LAHSHAL system, each column of the acronym is filled by a letter or symbol that confirms involvement of that part of the anatomy as well as the severity of the clefting: A capital letter means that anatomic feature was completely clefted; a lowercase letter means incomplete clefting; an asterisk (*) means minimal clefting (e.g., lesser-form cleft lip, notched alveolus, submucous cleft palate); and a period (.) or dot (•) means that anatomic feature is normally developed.
The following are examples of LAHSHAL notations and their meanings:
LAHSHAL Shorthand Notation | Longhand Phenotypic Description |
---|---|
[ LAHS••• ] | right unilateral complete cleft lip, complete cleft alveolus, and complete "unilateral" (Veau-III) cleft palate |
[ laHS••• ] | right unilateral incomplete cleft lip and alveolus, with complete "unilateral" (Veau-III) cleft palate |
[ •••SHal ] | left unilateral incomplete cleft lip and alveolus, with complete "unilateral" (Veau-III) cleft palate |
[ LAHSHAL ] | bilateral symmetric complete cleft lip, complete cleft alveolus, and complete "bilateral" (Veau-IV) cleft palate |
[ l*HSH*L ] | bilateral symmetric incomplete cleft lip, notched cleft alveolus, and complete "bilateral" (Veau-IV) cleft palate |
[ ••HSH•• ] | complete "midline" (Veau-II) cleft of hard and soft palate |
[ •••S••• ] | complete "midline" (Veau-I) cleft of soft palate |
A further modification to the LAHSHAL system has been described, which allows designation of a skin band (sometimes referred to as Simonart band) that is present in a complete cleft lip, using a plus sign (+) in the L column if a skin band is present.
The LAHSHAL system can describe over 12,000 combinations (of anatomy and severity) for CL/P. As such, it is extremely detailed. While its conciseness lends it well to usage in informatics, its steep learning curve has resulted in limited utility.
The CLAP notation was developed to be a more readable and clinically informative representation of cleft phenotype. [1] The CLAP notation consists of the capital letters L, A, and P, denoting involvement of the lip, alveolus, and palate, respectively—Presence of that capital letter signifies clefting of that part of the anatomy, and absence of that letter signifies that part of the anatomy is normal (non-clefted). To represent laterality and severity of any cleft lip, a lowercase prefix composed of two letters is added: that is, for laterality, u designates unilateral and b designates bilateral; and for severity, c designates complete, i designates incomplete, and m designates lesser-forms (minor-form, microform, and mini-microform). To describe the morphology of cleft palate, a suffix is appended using lowercase v1 to designate Veau-I, v2 for Veau-II, v3 for Veau-III, v4 for Veau-IV, sm for occult submucous cleft palate, and bu for overt submucous cleft palate with bifid uvula. (Note that no severity notation is given for any clefting of the alveolus, as the mere presence of the capital A is informative enough for treatment planning.)
Prefix (describing cleft lip) | CLAP (anatomic involvement) | Suffix (describing cleft palate) | |||
---|---|---|---|---|---|
Laterality | Severity | ||||
u (unilateral) b (bilateral) | c (complete) i (incomplete) m (lesser-form) | C | L (lip) A (alveolus) P (palate) | v1 (Veau-I) v2 (Veau-II) v3 (Veau-III) v4 (Veau-IV) sm (occult submucous) bu (overt submucous, with bifid uvula) | |
Examples of CLAP notations are provided below:
CLAP Shorthand Notation | Longhand Phenotypic Description |
---|---|
[ ucCLA ] | unilateral complete cleft lip and alveolus |
[ uiCLA ] | unilateral incomplete cleft lip and alveolus |
[ umCL ] | unilateral lesser-form cleft lip |
[ CPv2 ] | Veau-II cleft palate |
[ CPsm ] | Submucous cleft palate |
[ ucCLAPv3 ] | unilateral complete cleft lip, alveolus, and Veau-III palate |
[ bcCLAPv4 ] | bilateral complete cleft lip, alveolus, and Veau-IV palate |
Sidedness (left/right) of unilateral clefts is not abbreviated but may optionally be included in the square braces, e.g. [right ucCLAPv3].
CLAP notation appeals to the embryologically based classification systems because it provides an adequate description of the preforaminal and postforaminal components of the cleft (i.e., anterior and posterior to the incisive foramen). It is also appealing to clinicians because it concisely conveys the important information about anatomy, severity, and morphology that is useful to treatment planning. [1]
Diagnostic codes exist to describe the various forms of CL/P. The two most common coding systems used for description of the type of cleft include ICD-9 and ICD-10 (or modifications in the United States, ICD-9-CM and ICD-10-CM). [2] In ICD-9-CM, cleft lip is encoded by 749.10-749.14; cleft palate by 749.00-749.04; and cleft lip with cleft palate by 749.20-749.25. In ICD-10-CM, cleft lip is encoded by Q36.0-Q36.9; cleft palate by Q35.7-Q35.9; and cleft lip with cleft palate by Q37.8-Q37.9.
Because ICD-9-CM and ICD-10-CM systems are very generic and do not adequately convey the complexity of the various forms of CL/P, modifications to these coding systems were developed for use in epidemiologic surveillance and research. These systems include information about laterality, severity, and specific anatomic involvement (including the status of the alveolus, which is notably ignored by the ICD-based systems). The most commonly used modification is the BPA/CDC system, which is used by the Centers for Disease Control and Prevention (CDC) and many departments of health in the United States. The BPA/CDC system was originally a modification of the ICD-9 system, although the two systems diverged significantly. The BPA/CDC system is still used widely for birth defects monitoring and research, even though ICD-9-CM has been replaced in clinical use by ICD-10-CM. [3]
More recently, an expansion to the ICD-10-CM framework was developed, with a 1:1 equivalency between true phenotypic class and expanded code. [3]
Articles related to anatomy include:
Holoprosencephaly (HPE) is a cephalic disorder in which the prosencephalon fails to develop into two hemispheres, typically occurring between the 18th and 28th day of gestation. Normally, the forebrain is formed and the face begins to develop in the fifth and sixth weeks of human pregnancy. The condition also occurs in other species.
A cleft lip contains an opening in the upper lip that may extend into the nose. The opening may be on one side, both sides, or in the middle. A cleft palate occurs when the palate contains an opening into the nose. The term orofacial cleft refers to either condition or to both occurring together. These disorders can result in feeding problems, speech problems, hearing problems, and frequent ear infections. Less than half the time the condition is associated with other disorders.
The soft palate is, in mammals, the soft tissue constituting the back of the roof of the mouth. The soft palate is part of the palate of the mouth; the other part is the hard palate. The soft palate is distinguished from the hard palate at the front of the mouth in that it does not contain bone.
In anatomy, the palatine bones are two irregular bones of the facial skeleton in many animal species, located above the uvula in the throat. Together with the maxillae, they comprise the hard palate.
The hard palate is a thin horizontal bony plate made up of two bones of the facial skeleton, located in the roof of the mouth. The bones are the palatine process of the maxilla and the horizontal plate of palatine bone. The hard palate spans the alveolar arch formed by the alveolar process that holds the upper teeth.
Van der Woude syndrome (VDWS) is a genetic disorder characterized by the combination of lower lip pits, cleft lip with or without cleft palate (CL/P), and cleft palate only (CPO). The frequency of orofacial clefts ranges from 1:1000 to 1:500 births worldwide, and there are more than 400 syndromes that involve CL/P. VWS is distinct from other clefting syndromes due to the combination of cleft lip and palate (CLP) and CPO within the same family. Other features frequently associated with VWS include hypodontia in 10-81% of cases, narrow arched palate, congenital heart disease, heart murmur and cerebral abnormalities, syndactyly of the hands, polythelia, ankyloglossia, and adhesions between the upper and lower gum pads.
In the human mouth, the incisive foramen is the opening of the incisive canals on the hard palate immediately behind the incisor teeth. It gives passage to blood vessels and nerves. The incisive foramen is situated within the incisive fossa of the maxilla.
In human anatomy of the mouth, the palatine process of maxilla, is a thick, horizontal process of the maxilla. It forms the anterior three quarters of the hard palate, the horizontal plate of the palatine bone making up the rest.
Vomer flap surgery was used prior to 1975 as a surgical treatment for children with cleft palate. In this procedure, the vomer bone was used to reconstruct the palate and cover the cleft.
The greater palatine nerve is a branch of the pterygopalatine ganglion. This nerve is also referred to as the anterior palatine nerve, due to its location anterior to the lesser palatine nerve. It carries both general sensory fibres from the maxillary nerve, and parasympathetic fibers from the nerve of the pterygoid canal. It may be anaesthetised for procedures of the mouth and maxillary (upper) teeth.
The secondary palate is an anatomical structure that divides the nasal cavity from the oral cavity in many vertebrates.
Velopharyngeal insufficiency is a disorder of structure that causes a failure of the velum to close against the posterior pharyngeal wall during speech in order to close off the nose during oral speech production. This is important because speech requires sound and airflow to be directed into the oral cavity (mouth) for the production of all speech sound with the exception of nasal sounds. If complete closure does not occur during speech, this can cause hypernasality and/or audible nasal emission during speech. In addition, there may be inadequate airflow to produce most consonants, making them sound weak or omitted.
The premaxilla is one of a pair of small cranial bones at the very tip of the upper jaw of many animals, usually, but not always, bearing teeth. In humans, they are fused with the maxilla. The "premaxilla" of therian mammals has been usually termed as the incisive bone. Other terms used for this structure include premaxillary bone or os premaxillare, intermaxillary bone or os intermaxillare, and Goethe's bone.
Frontonasal dysplasia (FND) is a congenital malformation of the midface. For the diagnosis of FND, a patient should present at least two of the following characteristics: hypertelorism, a wide nasal root, vertical midline cleft of the nose and/or upper lip, cleft of the wings of the nose, malformed nasal tip, encephalocele or V-shaped hair pattern on the forehead. The cause of FND remains unknown. FND seems to be sporadic (random) and multiple environmental factors are suggested as possible causes for the syndrome. However, in some families multiple cases of FND were reported, which suggests a genetic cause of FND.
Oral and maxillofacial pathology refers to the diseases of the mouth, jaws and related structures such as salivary glands, temporomandibular joints, facial muscles and perioral skin. The mouth is an important organ with many different functions. It is also prone to a variety of medical and dental disorders.
A mouth assessment is performed as part of a patient's health assessment. The mouth is the beginning of the digestive system and a substantial part of the respiratory tract. Before an assessment of the mouth, patient is sometimes advised to remove any dentures. The assessment begins with a dental-health questionnaire, including questions about toothache, hoarseness, dysphagia(difficulty swallowing), altered taste or a frequent sore throat, current and previous tobacco use and alcohol consumption and any sores, lesions or bleeding of the gums.
A facial cleft is an opening or gap in the face, or a malformation of a part of the face. Facial clefts is a collective term for all sorts of clefts. All structures like bone, soft tissue, skin etc. can be affected. Facial clefts are extremely rare congenital anomalies. There are many variations of a type of clefting and classifications are needed to describe and classify all types of clefting. Facial clefts hardly ever occur isolated; most of the time there is an overlap of adjacent facial clefts.
Hypernasal speech is a disorder that causes abnormal resonance in a human's voice due to increased airflow through the nose during speech. It is caused by an open nasal cavity resulting from an incomplete closure of the soft palate and/or velopharyngeal sphincter. In normal speech, nasality is referred to as nasalization and is a linguistic category that can apply to vowels or consonants in a specific language. The primary underlying physical variable determining the degree of nasality in normal speech is the opening and closing of a velopharyngeal passage way between the oral vocal tract and the nasal vocal tract. In the normal vocal tract anatomy, this opening is controlled by lowering and raising the velum or soft palate, to open or close, respectively, the velopharyngeal passageway.
In human anatomy, the mouth is the first portion of the alimentary canal that receives food and produces saliva. The oral mucosa is the mucous membrane epithelium lining the inside of the mouth.