Please find below a glossary to explain terms that you may encounter throughout this site and during interactions with medical professionals in the cleft and craniofacial field.
22Q11.2 Deletion Syndrome
A condition present at birth which involves many parts of the body and varies between individuals. Also known as DiGeorge syndrome, Velocardiofacial syndrome and CATCH-22. May involve a cleft palate or a submucous cleft palate or may be associated with velopharyngeal dysfunction in the absence of a cleft palate. Caused by the deletion of a part of chromosome 22 at the location q11.2.
A surgical technique used in facial reconstruction whereby tissues around the lip are re-arranged. May be utilised in secondary revisions of cleft lip reconstruction.
A patch of tissue at the back of the throat behind the nose. Together with the tonsils, they form part of the immune system to help the body fight infection. Because of their location, the adenoids sometimes get involved with speaking and breathing. Adenoids tend to be comparatively larger in younger children compared to adults, and therefore take up more space in the airway.
Adhesion (of lip or palate)
The first stage of a multi-staged surgical technique to reconstruct a cleft lip or cleft palate. An adhesion at the first stage approximates the tissue edges of the cleft in preparation for definition reconstruction at a later stage.
The cause of a condition.
A category of consonant speech sound and is a combination of a plosive (complete obstruction or breath) at the start followed by a fricative (partial obstruction of breath). Examples of affricates in the English language are /ch/ (as in chair) and /j/ (as in judge)
Anatomical term for nostrils
Anatomical term for where the nostrils meet the cheek
A surgical technique to reconstruct the cleft (gap) in the alveolar ridge that may accompany a cleft lip and/or palate. Bone is taken from elsewhere in the body to fill the gap, most commonly from the hip or the leg. The timing of the procedure is important and coincides with the mixed dentition period where there is a transition from deciduous teeth to permanent teeth.
Anatomical term for the gum-lined bony ridge within the top and bottom jaws that contains the sockets for the teeth
A substance that produces a loss of sensation, including pain. Most cleft and craniofacial surgical procedures are performed using general anaesthetic, which affects the whole body and causes a loss of consciousness. Some procedures might be appropriate for local anaesthetics, whereby a temporary loss of feeling occurs in a restricted area of the body.
A specialist doctor who is responsible for giving anaesthetic for procedures in hospital.
Anatomical subunit lip repair
A surgical technique to reconstruct a cleft lip
whereby tissues of the lip are rearranged and aligned. Originally described by David Fisher in 2005 with modifications subsequently described.
Anatomical directional term meaning ‘front’. The opposite term is posterior meaning ‘back’.
A medication to stop the growth of bacteria. Antibiotics may be given in advance (prophylactically) to prevent the occurrence of infection or as a treatment for established infection.
A condition present at birth characterised by craniosynostosis and associated with differences of the facial bones, hands and feet. Other organ systems around the body can be affected. There is an alteration in the FGFR2 gene.
The action of producing a sound or word clearly.
A graph showing the result of a hearing test. It shows how loud sounds need to be at different frequencies for them to be heard by an individual. This helps to diagnose the type and degree of hearing problems.
A health care professional who is involved in the identification, assessment and management of hearing disorders.
An important stage in infant speech development characterised by the infant experimenting with articulating sounds that are not recognisable as words. It usually occurs at 6-9 months of age but there is wide variation.
A compensatory speech behaviour whereby sounds are made at anatomical positions that are further back in the mouth or throat than usual. Backing can be categorised as ‘backing to velar’ (where alveolar targets are backed to the palate e.g. /t/ is said as /k/) and ‘backing to uvular (where alveolar or velar targets are backed to the uvular e.g. /k/ to /q/).
The division of a structure into two parts. For example, in submucous cleft palate, a bifid uvula may be present.
Anatomical term meaning the involvement of both sides of the body. The opposite term is unilateral.
Anatomical term referring to both the upper and lower jaw (maxilla and mandible respectively). The term is used in the procedural name ‘bimaxillary osteotomy’ which is the surgical repositioning of both the upper and lower jaw.
A condition present at birth characterised by underdevelopment of nose and upper jaw. Also called Nasomaxillary Dysplasia. The underlying cause is poorly understood.
Bone morphogenic proteins (BMPs)
A group of growth factors that play a role in the formation of bone. BMPs have been trialled in cleft and craniofacial surgery to promote bone regeneration.
A surgical technique involving the reorientation of tissue (mucosa and muscle) from the inside of the cheek. May be used in operations involving a cleft palate to recruit additional tissue into the palate.
Calvarial vault remodelling
A surgical technique to correct an abnormal head shape due to craniosynostosis and enlarge the space within the skull to allow the brain to grow and develop.
CAPS-A (Cleft Audit Protocol for Speech)
A valid and reliable audit tool for recording and reporting cleft speech outcomes providing an indication of treatment needs and continuing burden of care.
An condition present at birth characterised by craniosynostosis and associated with differences in facial bones, ears, nose and hands. There is an alteration in the RAB23 gene.
A firm and flexible connective tissue that is found in various parts of the body including the nose and ear, where it plays an important structural role.
The analysis of relationships between the teeth and bones of the human skull and face. Frequently used by health professionals as a tool for orthodontic care.
A medical term meaning cleft lip reconstruction.
A condition present at birth whereby the upper lip tissues have not fused, resulting in a characteristic gap (cleft). It can range from a small notch in the lip to a wide gap that reaches up into the nose and the underlying gum (alveolar ridge). It can occur in isolation or in combination with a cleft palate. The cause remains unclear and likely involves multiple genetic and environmental factors.
A surgical intervention to reorientate and oppose the upper lip tissues on either side of the cleft (skin, muscle and mucosa) to respect and reconstruct recognised anatomical landmarks.
A condition present at birth whereby the tissues in the roof of the mouth have not fuse, resulting in a characteristic gap (cleft). It can range from a small notch at the back of the mouth to a cleft that runs all the way from the back of the mouth to the front of the mouth. It can occur in isolation or in combination with a cleft lip.
Cleft palate reconstruction
A surgical intervention to reorientate the tissues (mucosa and muscle) in the roof of the mouth, aiming to separate the nose from the mouth, optimise speech and minimise restriction of facial growth.
Cleft Speech Characteristics (CSCs)
A group of articulation errors of consonant production typically associated with a cleft palate.
A patient reported outcome measure (PROM) in cleft lip and/or palate. It is a questionnaire for patients aged 8-29 years which covers appearance, facial function (such as speaking and eating) and quality of life.
Clinical Nurse Specialist
An advanced practice registered nurse who may have specialised in cleft or craniofacial care.
Anatomical term for the strip of skin that runs from the tip of the nose to the upper lip and separates the nostrils.
An attempt to create a sound by changing the location of production in the mouth or throat, in circumstances where a person is unable to make that sound at the usual location.
A term that in infers a condition that is present at birth.
A speech sound in which the breath is at least partly obstructed by partial or complete closure of the vocal tract.
Continuous Positive Airway Pressure (CPAP)
A breathing therapy which uses a machine and mask (covering the nose and mouth) to help a person who has obstructive sleep apnoea. It increases pressure in the throat to prevent collapse of the airway during sleep.
A group of conditions present at birth characterised by differences of the face and head affecting both bone and soft tissues. Craniofacial clefts occur in three main categories based on their location: clefts through the centre of the face; clefts involving the mouth, nose and eyes; clefts involving the ear and jaw. Craniofacial clefts can occur in isolation or in association with syndromes. Also called atypical clefts, to differentiate from cleft lip and/or cleft palate.
A condition present at birth characterised by underdevelopment of the lower half of the face, most commonly the ears, mouth and mandible. It can be unilateral or bilateral. Craniofacial microsomia is a term that encompasses hemifacial microsomia and Goldenhar Syndrome. The cause in most cases is not known.
A condition present at birth whereby the bones in the skull fuse together too early. This can cause problems with the growth of brain and skull and result in characteristic head shapes, depending on the location of bony fusion. Craniosynostosis can occur in isolation or as part of a syndrome.
A misalignment of the teeth (malocclusion) whereby an upper tooth (or teeth) fit inside a lower tooth (or teeth). This can be an anterior crossbite if teeth at the front of the mouth are affected or a posterior crossbite if teeth at the back of the mouth are affected.
A condition present at birth characterised by craniosynostosis and associated with differences in the facial bones. There is an alteration in the FGFR2 gene.
Anatomical term for the curve of the upper lip as it is said to resemble the bow of Cupid, the ancient Roman God of Love.
Also known as baby teeth, milk teeth or primary teeth. There are typically 20 deciduous teeth: 10 in the upper jaw and 10 in the lower jaw. They develop during pregnancy but erupt through the gums in infancy. They are usually lost and replaced by permanent teeth.
The two arches of teeth, one on the upper jaw (maxilla) and one on the lower jaw (mandible). The dental arch is housed within the alveolar ridges. The way the top teeth and bottom teeth bite together is known as the occlusion.
Commonly known as lisping. Sounds that are made at the front of the mouth when the tongue rests on, or pushes against the front teeth
A health professional dedicated to the oral health of children from infancy through to teenage years.
A health professional dedicated to the maintenance of adult teeth, their aesthetics and the replacement of missing teeth.
See 22Q11.2 Deletion Syndrome.
A surgical technique to lengthen bones by first making a cut in the bone and then using a device called a distractor to slowly pull the two pieces of bone apart. New bone grows (osteogenesis) to fill the gap. This technique can used in both cleft and craniofacial surgery.
A surgical technique to reconstruct a cleft palate during infancy. This technique may also be used at an older age as an option for secondary speech surgery.
Ear Nose and Throat (ENT) Surgeon
A surgeon trained in Ear Nose and Throat (ENT) Surgery who may subsequently specialise in cleft or craniofacial surgery.
Environmental factors related to the cause (aetiology) of a condition present at birth involve exposure to external substances and conditions, which may have had an influence in the way in which bodily structures are formed. Examples of environmental factors, which have been studied for their impact on health include air pollution, cigarette smoking and obesity.
Anatomical term to describe a tube leading from the middle ear to the throat, which functions to equalise pressure on each side of the tympanic membrane. It may be affected by a cleft palate, in which there is an increased risk of otitis media.
The output of language. The ability to communicate thoughts and feelings through words, gestures, signs and/or symbols.
FAMM (Facial artery musculomucosal) flap
A surgical technique involving the reorientation of tissue (mucosa and muscle) from the inside of the cheek. May be used in operations involving a cleft palate to bring in additional tissue to the palate.
An abnormal connection between two body parts. A fistula in the roof of the mouth (palatal fistula) forms a connection between the nose and the mouth and may occur following palate reconstruction. Fistulae vary in terms of their size, shape and position and may be asymptomatic or associated with symptoms such as regurgitation (of drink or food) or speech characteristics.
A tool for measuring outcomes in cleft in terms of the relationship between the dental arch in the upper jaw (maxilla) and the dental arch in the lower jaw (mandible).
A surgical technique whereby tissue with its own blood supply is moved from one location of the body to another location of the body.
A consonant made by forcing air through a narrow gap, generating a voiced or voiceless hissing sound. Examples of fricatives in the English language are /f/ (as in first) and /s/ (as in saw).
A surgical procedure used to reshape and reposition the bones of the forehead and eye sockets. May be recommended for craniosynostosis.
A condition due to alterations (mutations) in genes. Genetic conditions can occur sporadically or be inherited.
Genetic factors related to the cause (aetiology) of a condition present at birth involve alterations in genes at the chromosomal or molecular level. These genetic alterations are thought to play a role in the formation of the birth condition but it is important to emphasise that genetic alterations are not necessarily inherited and may occur spontaneously.
A surgical technique to repair the gum (mucosa) surrounding a cleft in the upper jaw (alveolar ridge).
The displacement of the tongue towards the back of the mouth. May be a feature of Pierre Robin Sequence.
Consonants that are produced in the throat in the vocal cords (glottis)
A sound produced by momentary closure of the airstream at the vocal cords in the throat (glottis) followed by sudden opening. Produces a grunting sound. In patients with cleft palate they may be used as a compensatory mechanism of sound production in the presence of velopharyngeal dysfunction.
See otitis media with effusion.
A condition present at birth that is characterised by disrupted development of the ear, eye and spine. It may affect one or both sides of the face. It is part of a group of conditions known as craniofacial microsomia which includes hemifacial microsomia. The cause in most cases is not known.
GOS.SP.ASS (Great Ormond Street Speech Assessment)
A comprehensive screening procedure for describing the speech characteristics commonly associated with cleft palate and/or velopharyngeal dysfunction. Designed to be used by specialist speech and language therapists in this field.
A clinical tool to allow categorisation of dental relationships at late mixed or early permanent dentition stage (usually around 10 year of age). Five discrete categories. Allows comparison of outcomes following earlier cleft treatment.
A small tube inserted surgically into the ear drum (tympanic membrane) to prevent the accumulation of fluid in the middle ear (otitis media with effusion). Also known as a tympanostomy tube or myringotomy tube.
The front (anterior) section of the roof of the mouth. It is covered with mucosa but is hard due to the underlying bones. It is important for the functions of eating and speaking.
See craniofacial microsomia
A condition present at birth characterised by a variable degree of brain and facial differences. This condition may be associated with a cleft lip and/or palate and abnormalities in the formation of the nose. The cause is not fuly understood but involves the embryological development of the front of the brain (forebrain). An endocrinology evaluation may be performed due to involvement of the underlying pituitary gland.
A condition present at birth that is characterised by disrupted forebrain development. Clefts and other facial differences may be present to a variable degree.
Excessive air resonating in the nasal cavity or an abnormal increase in nasal resonance of the voice during speech production. Hypernasailty can be a feature of velopharyngeal dysfunction in a person with cleft palate. Hypernasality leads to weak oral pressure for consonants and is detected on vowels and approximants.
A term to describe an abnormally large distance between the eye sockets (orbits). Hypertelorism may be a feature of several craniofacial syndromes.
A thickened raised scar that is an abnormal response to wound healing and characteristically stays within the boundary of the original wound. Most often self-limiting and responsive to therapeutic interventions.
Not enough air resonating in the nasal cavity. Detected on nasal consonants e.g. /m/ and /n/. Due to a structural cause such as nasal polyps, adenoids or a deviated nasal septum.
An abnormal yet silent transmission of air through the nose. May be diagnosed by a speech and language therapist with a mirror held under the nose during speech.
A genetic condition where the altered gene is inherited from one or both parents. It is important to note that not all genetic conditions are hereditary as some genetic differences can occur sporadically.
Instrumental speech assessment
Methods of assessing speech that use medical equipment. Examples include videofluroscopy and nasendoscopy. Used alongside a perceptual speech assessment.
A measure of how clearly a person speaks and how well they are understood by the listener.
Intracranial pressure (ICP)
The pressure exerted by fluids within the skull such as cerebrospinal fluid. Some craniofacial conditions may be associated with raised ICP. If the ICP rises too high it may cause damage to the brain.
A surgical technique used to reconstruct a cleft palate.
A thick raised scar that is an abnormal response to wound healing and characteristically strays beyond the initial wound boundary. They may persist and have an unpredictable response to therapeutic intervention
A classification system for cleft lip and palate. It is a palindrome whereby each letter represents an anatomical structure. From the start the letters represent: L (lip right), A (alveolus right), H (hard palate right), S (soft palate median), H (hard palate left), A (alveolus left), L (lip left). This classification system is used widely in the United Kingdom by national organisations such as CRANE.
In medical terminology, language refers to the complex system of words, symbols and body language used to communicate with one another.
Lateral (relaxing/relieving) incisions
A surgical technique of cuts in the palate mucosa (incisions) that may be used in a cleft palate reconstruction to reduce tension at the repair site.
An anatomical term referring to the side of the body affected by a condition. A condition may be unilateral (affecting one side) or bilateral (affecting both sides).
A surgical technique to move facial bones as part of reconstruction in craniofacial conditions. There are three types of LeFort osteotomy that are used depending on the bones that need to be moved.
A technique using tape to approximate the lips in a cleft lip before they are surgically reconstructed. Lip taping may be beneficial to help realign tissues and reduce the width of the cleft.
An abnormal position (alignment) of the teeth.
An anatomical term for the lower jawbone.
An anatomical term for the upper jawbone.
An outcome measure utilised in cleft care. A cleft of the lip or palate and its treatment may impact upon the normal growth of the maxilla. The growth and position of the maxilla and its teeth can be measured with tools such as the GOSLON yardstick and the 5-Year Olds’ Index.
A surgeon who is dual qualified in both dentistry and medicine, trained in Oral and Maxillofacial Surgery and who may subsequently specialise in cleft or craniofacial surgery.
A subtle form of incomplete cleft lip that may appear as a notch in the lip tissue (vermillion), although underlying tissue differences may be more extensive. Also known as a forme fruste.
A small under-developed mandible. Also known as mandibular hypoplasia. May be associated with Pierre Robin Sequence or Treacher Collins Syndrome.
Anatomical term to describe the air-filled central cavity of the ear, behind the tympanic membrane. It functions to carry sound waves from the outer ear to the inner ear. The eustachian tube connects the middle ear to the throat.
A developmental stage in dentition whereby some permanent teeth have erupted in the mouth but not all deciduous teeth have been shed. Specifically, it is the period after the first permanent molars and incisors have erupted and before the remaining deciduous teeth are lost.
The moist inner lining of body cavities. Present on the inside of the mouth (oral mucosa) and nose (nasal mucosa).
An condition present at birth characterised by craniosynostosis and associated with differences in hands, feet and hearing loss. There is an alteration in the FGFR3 gene.
A permanent alteration, variation or change in the DNA sequence that makes up a gene.
A surgical procedure involving a cut (incision) in the tympanic membrane, typically used to relieve pressure caused by build-up of fluid or pus in the middle ear. A grommet (tympanostomy tube) may be inserted at the same time.
A condition present at birth characterised by craniofacial differences (which may include cleft lip and palate) in association with differences in the thumb and forearm. There is an alteration in the SF3B4 gene.
Excessive escape of air through the nose during speech. It can either be heard during speech (audible nasal emission) or not heard during speech (inaudible nasal emission), but instead detected by a speech and language therapist. Accompanies or replaces voiceless pressure consonants such as /p/ and /t/
An anatomical term to describe the dividing wall running down the middle of the nose, separating the two nasal cavities. The septum is composed of bone, cartilage and mucous membrane.
Noisy turbulent sound made at the site of velopharyngeal valve closure. Thought to indicate a small velopharyngeal defect. Heard on voiced consonants e.g. /b/ and /d/
An instrument used to visualise the back of the nose and throat. It involves a thin flexible tube with a camera at the end of it being passed down one nostril. It can be helpful in diagnosing velopharyngeal dysfunction as it enables the clinician to examine the velopharyngeal valve and assess closure.
Nasoalveolar moulding (NAM)
An appliance belonging to the group of passive pre-surgical orthopaedics used in infants born with a cleft lip prior to cleft lip reconstruction. Characterised by an acrylic plate that serves to mould the alveolar ridges and a stent of wire and acrylic to mould the nasal cartilages.
A medical device that is used to help with feeding. It consists of a small tube which is passed through the nose, down the throat and oesophagus and into the stomach. Food and medicine can be delivered through the tube.
A condition present at birth that is characterised by facial differences, webbed neck, low posterior hairline, chest defects, heart defects and a short stature. There are thought to be alterations in multiple genes including PTPN11, SOS1 and RAF1.
Obstructive Sleep Apnoea (OSA)
A sleep-related breathing disorder that involves a decrease in airflow due to tissues at the back of the throat blocking the airway. The brain responds by alerting the body, leading to brief re-awakenings to restore normal breathing. This may result in fragmented sleep and daytime tiredness.
A medical device that blocks an opening. Can be used to manage fistulae in the palate.
The way in which the teeth meet and line-up when the maxilla and mandible come together. Occlusion can be categorised according to three classes: Class 1 refers to a normal relationship between the teeth, Class 2 refers to a backward position of the mandible compared to the maxilla and Class 3 refers to a forward position of the mandible compared to the maxilla.
Oculo-auricular-vertebral (OAV) spectrum
Conditions present at birth involving the eyes, ears and spine, that are believed to represent a range of severity of the same disorder. Conditions include craniofacial microsomia, hemifacial microsomia and Goldenhar syndrome.
A type of malocclusion whereby there is no contact between the front teeth (incisors) of the maxilla and mandible.
A term inferring conditions relating to the eyes
A medical professional specialising in the study and treatment of conditions relating to the eyes
A term relating to the mouth
A term relating to the mouth and face. The term ‘orofacial cleft’ is sometimes used as an umbrella term to describe the various subtypes of clefts involving the lip and/or palate.
An area of dentistry dedicated to moving teeth to an optimal position within the jaws.
A specialist dentist trained in orthodontics (the safe movement of teeth within the jaws)
A term to describe a group of surgical procedures aiming to correct deformities of the jaws and teeth (malocclusion).
A surgical term used to describe the cutting of bone, usually to change its position (realignment).
See Ear Nose and Throat (ENT) Surgeon
A term to describe the vertical relationship between the upper and lower front teeth. Overbite is the extent to which the upper front teeth overlap the lower front teeth.
A term to describe the horizontal relationship of the upper and lower front teeth. Overjet is the outward protrusion of the upper front teeth or lower teeth, when the lower teeth and in front of the upper teeth, it is described as being a “reverse overjet”.
A medical professional who has specialised in the study and treatment of children.
The roof of the mouth, separating the mouth (oral cavity) from the nose (nasal cavity). Includes the hard palate (formed from mucosa overlying the palatine processes of the maxilla and the palatine bones) and soft palate (formed from mucosa overlying five muscles). Important role in speech due to its part in the velopharyngeal valve. Embryologically derived from the secondary palate, posterior to the incisive foramen.
A surgical procedure to reconstruct a cleft palate.
An anatomical term to describe a bulge in the back of the throat where the soft palate lifts up to meet it in order to achieve velopharyngeal valve closure.
Perceptual speech assessment
A detailed analysis of speech by a specialist speech and language therapist. The assessment will cover areas of speech including resonance, articulation and intelligibility of speech. It is considered the gold standard method of speech assessment.
The second and final set of teeth in humans that replace the deciduous teeth. There are 32 permanent teeth spread equally between the maxilla and mandible: 12 molars, 8 pre-molars, 4 canines and 8 incisors.
A condition present at birth characterised by craniosynostosis in association with differences in facial bones, ears, thumbs and great toes. There is an alteration in FGFR1 and FGFR2 genes.
A surgical procedure whereby a flap of tissue from the back of the throat (pharynx) is lifted and attached to the back of the soft palate. A pharyngeal flap is a type of pharyngoplasty and aims to improve speech.
A surgical procedure aiming to improve speech. A pharyngoplasty helps the mechanism of separating the mouth from the nose by moving tissue in the throat wall at the back of the mouth. There are two main types of pharyngoplasty: the pharyngeal flap and sphincter pharyngoplasties.
Anatomical term for the vertical groove that runs centrally between the base of the nose and border of the upper lip.
A medical term to describe the production of speech sounds.
Pierre Robin Sequence (PRS)
A condition present at birth characterised by small lower jaw (micrognathia), positioning of the tongue towards the back of the mouth (glosspotosis) and breathing problems. It is associated with cleft palate. Many factors are believed to be involved in the cause during pregnancy. PRS may occur in isolation or as part of a syndrome such as Stickler, Treacher Collins and 22Q11.2 Deletion.
A surgeon trained in Plastic and Reconstructive Surgery who may subsequently specialise in cleft or craniofacial surgery.
A category of consonant speech sound which is characterised by a complete obstruction of breath followed by a sudden release. Examples of plosives in the English language are /b/ (as in boy) and /p/ (as in puppy).
Also known as a sleep study, polysomnography is a test performed during sleep to record various body functions which may include brain waves, oxygen level of the blood, heart rate, breathing rate, eye and leg movements.
A condition where specific areas of an infant’s skull develop a flattened appearance due to pressure from the outside. The leading cause of pressure is the baby’s sleep position on their back, which is recommended to reduce the risk of sudden infant death syndrome (SIDS).
An anatomical term meaning towards the back. The opposite term is anterior.
An anatomical term to describe one of a pair of bones (intermaxillary segment) at the centre of the upper jaw that bear the 4 incisor teeth. The premaxilla is embryologically derived from the medial nasal prominences (at the leading edge of the frontonasal prominence) and fuses with the maxillary prominences to form the complete arch of the upper jaw. In a complete bilateral cleft lip, the premaxilla is protrusive because it is not fused and restrained by the maxillary alveolar arches.
Speech sounds that require the palate to close at the back of the throat (velopharyngeal closure). Pressure consonants include plosives ( /p/ and /b/), alveolars (/t/and/d/), velars (/k/ and /g/) fricatives ( /f//s/,/sh/ and /v/) and affricatives (i.e. /ch/ and /j/). Pressure consonants do not include nasal consonants (/m/, /n/ and /ng/).
Presurgical orthopaedics (PSO)
Medical appliances used to mould tissues of the upper lip in early life prior to a cleft lip reconstruction. Tissues influenced can involve the skin, nose and gums (alveolar ridges). The aim is to improve the position (alignment) of tissues before surgery. Appliances may be passive (i.e. Nasoalveolar Moulding) or active (i.e. Latham Device).
An embryological term to describe tissues that are derived from the fusion of the medial nasal prominences (at the leading edge of the frontonasal prominence) with the maxillary prominences. These include the upper lip, columella, maxillary alveolus and hard palate anterior to the incisive foramen.
An embryological term to describe the central part of the upper lip. The maxillary prominences should fuse with the medial nasal prominences to allow migration of mesenchymal cells, which results in the characteristic anatomy of the central upper lip with philtral columns and the philtral groove. In a bilateral cleft lip there is a failure of fusion on both side which leaves the prolabium exposed without muscle or philtral features.
An artificial body part that can replace a missing body part.
A dental professional dedicated to the design, manufacture and fitting of prosthesis for teeth and other parts of the mouth.
An anatomical term describing something sticking out or being displaced forward. The opposite term is retrusion.
A medical professional dedicated to the study and treatment of the mind and behaviours and may specialise specifically in cleft and craniofacial anomalies.
The input of language. The ability to understand information. It involves understanding the words, sentences and meaning of what others say or what is read.
A measure of the way in which sound is shaped as it passes through the pharynx (throat), oral cavity (mouth) and nasal cavity (nose). Resonance is altered by hypernasality (where too much sound vibrates in the nose during speech) and hyponasality (where too little sound vibrates in the nose during speech).
Anatomical term meaning backward displacement. Often used to describe the position of the teeth or jaws. The opposite term is protrusion.
A surgical procedure to change the shape of the nose
Rotation advancement lip repair
A surgical technique to used in cleft lip reconstruction whereby tissues of the lip are rearranged and aligned. Originally described by David Ralph Millard in the 1950s with modifications subsequently described.
A condition present at birth characterised by craniosynostosis and associated with differences of the facial bones, fingers, toes, ears and spine. There is an alteration of the TWIST1 gene.
A scar is an area of fibrous tissue that is result the bodies normal biological response to healing a wound. Therefore, every wound results in some form of scarring. An abnormal response to wound healing can result in hypertrophic scars or keloid scars.
An embryological term to describe tissues that are derived from the fusion of the palatal shelves from the two maxillary prominences. These include the soft palate and hard palate posterior to the incisive foramen.
A term to describe a number of different operations that may be required to improve speech in a child with a cleft palate after the primary operation to reconstruct the cleft palate. Operations may include palate re-repair, buccal flaps or pharyngoplasties.
A medical term to describe a pattern of anomalies that results from a series of ordered consequences due to a single cause. An example of a sequence is Pierre Robin Sequence. This term should be differentiated from syndrome.
An anatomical term to describe a soft tissue bridge at the threshold of the nostril, or more internally, between segmented alveolar ridges.
The back (posterior) section of the roof of the mouth. It is covered with mucosa and is soft due to the 5 pairs of muscles within it. It is important for the functions of eating and speaking.
How we say sounds and words. The formation of speech sounds involve a complex interplay between anatomical structures from the diaphragm all the way to the lips. It is a combination of articulation (how we make speech sounds using the mouth, lips and tongue), voice (how we use our vocal folds and breath to make sounds) and fluency (the rhythm of our speech.)
Speech and language therapist
A health professional dedicated to the assessment and therapeutic treatment of speech and language.
Speech assessment can be perceptual or instrumental.
A condition present at birth characterised by differences in eye, ears, skeleton and joints. There may be an associated cleft palate. There is an alteration of the COL2A1 gene.
A condition present at birth whereby the mucosa of the mouth and nose are appropriately intact but the intervening palatal muscles are abnormally orientated and attached. Clinically the cardinal signs of a submucous cleft palate are a bifid uvula, a notch in the back of the hard palate and a translucent line in the middle of the soft palate. Can be associated with velopharyngeal dysfunction to varying degrees.
Teeth in addition to the normal number of primary teeth or permanent teeth, they may occur anywhere in the mouth.
A medical term to describe a recognisable pattern of signs or symptoms that ‘run together’. A genetic alteration has often been identified.
Treacher Collins Syndrome
A condition present at birth characterised by differences of the head and face. There may be underdevelopment of the bones of the face, ears and tissues around the eyes and it is associated with cleft palate. Also known as mandibulofacial dysostosis. There is an alteration in the TCOF1 gene.
Anatomical term for the eardrum, which receives and transmits sound vibrations. It separates the outer ear from the middle ear.
Anatomical term meaning the involvement of one side of the body. The opposite term is bilateral.
Anatomical term to describe the fleshy extension at the back of the roof of the mouth (soft palate) which hangs above the throat. Many people may have a split or forked uvula (bifid uvula) and this can also be associated with a submucous cleft palate.
A condition present at birth characterised by cleft lip and/or cleft palate, depressions (pits) in the lower lip and missing teeth (hypodontia). There is an alteration in the IRF6 gene.
See 22Q11.2 Deletion Syndrome
Velopharyngeal dysfunction (VPD)
An umbrella term for failure of velopharyngeal closure. Velopharyngeal dysfunction can be problematic in terms of regurgitation of food into the nasal cavity and speech characteristics. Velopharyngeal insufficiency and velopharyngeal incompetence are subtypes of velopharyngeal dysfunction.
A failure of velopharyngeal closure due to impaired neuromuscular control.
Velopharyngeal insufficiency (VPI)
A failure of velopharyngeal closure due to a structural problem. In patients born with a cleft palate, this can be caused by a palate that is short, a palate that has an anterior lift or in the presence of a large pharynx (pharyngeal disproportion).
Velopharyngeal valve and closure
The velopharyngeal valve is an anatomical term to describe the soft palate and the pharyngeal walls (lateral and posterior). This muscular valve functions to create a tight seal to separate the oral and nasal cavities, which is important during eating and speech.
Anatomical term to describe the soft tissue at the back of the roof of the mouth (soft palate).
The red portion of the upper and lower lips. The red colouration is due to the high concentration of blood vessels just under the surface.
An investigation that involves X-rays to evaluate the movements in the mouth and throat. This investigation is most used to assess swallowing but in patients with a cleft palate it tends to be used to assess the movement of the palate (the integrity of the velopharyngeal valve) during speech. This investigation is extremely useful, painless and very well tolerated.
A surgical technique that uses tissue from the central part of the internal nose to partially reconstruct a cleft palate
A speech sound which is produced by an open configuration of the vocal tract.
A notch in the upper lip tissue (vermillion) that may occur following cleft lip reconstruction. It is called a whistling deformity because the notch may result in a gap between the upper and lower lips.
A surgical technique whereby a Z incision is made in order to improve the position and appearance of a scar.