Cleft Lip & Palate Flashcards
Cleft
an abnormal opening in an anatomic structure
Cleft Lip/Palate
Occurs in utero and is a disruption to embryological development
Clefts are due to delayed migration of neural crest cells
Cleft lip – opening in the lip
Cleft palate – opening in the palate
Individuals with cleft palate without cleft lip are more likely to have other malformations
Cleft lip and/or cleft palate is associated with hundreds of syndromes
Craniofacial anomaly
– structural abnormality of the cranium (skull) and/or face
Embryonic Development of the Lip and Alveolus
– development begins at 6-7 weeks gestation
Development begins at the incisive foramen and moves forward to the alveolus closing along the incisive suture lines
Next, the base of the nose and then the upper lip fuse
The upper lip consists of two segments which fuse together to form the philtrum and philtrum lines
Embryonic Development of the Hard and Soft Palate
Palate development begins at 8-9 weeks gestation
At 7-8 weeks gestation the tongue begins to move down from the nasal cavity
At this time, the palate starts to close
Palate closure begins at the incisive foramen and moves posteriorly (back) along the median palatine suture line
Uvula and velum close at 12 weeks gestation
Oral Anatomy
Hard palate – separates the nasal and oral cavities
Formed by – the palatine process of the maxillary bone & horizontal part of the palatine bone
Anatomical landmarks:
- Incisive foramen
- Posterior nasal spine
- Vomer
- Incisive suture lines
- Alveolus
Soft Palate Anatomy
At rest sits against base of tongue
Has an oral surface and a nasal surface
Uvula has no known function
Pharynx
Area between the nasal cavity and esophagus
Pharyngeal wall – have a posterior and lateral portion
- Posterior pharyngeal wall (PPW)- posterior (back) portion of throat
- Lateral pharyngeal wall (LPW) – side of throat
Divided into:
- Nasopharynx– nasal cavity to velum
- Oropharynx– oral cavity to epiglottis
- Hypopharynx– epiglottis to esophagus
Eustachian Tube
Connects middle ear to pharynx
Closed at rest
Opens during yawning and swallowing
Function: pressure regulation (air and fluid)
Levator veli palatini
pulls the velum up and back
Palatopharyngeus
pulls the lateral pharyngeal walls upward and medially
Superior constrictor
constricts the pharyngeal walls against the velum
Tensor veli palatini
opens the Eustachian tube
Resonance
vibration of sound energy throughout cavities and tracts
Can be disrupted with cleft palate
Speech Valves
3 valves contribute to the acoustic properties of voice; These valves can change in shape and size
Glottis – space between vocal folds
Vocal tract – glottis through pharynx to oral cavity
Velopharyngeal closure – separates nasal cavity from vocal tract
Constriction of the lips and tongue - articulation
Velopharyngeal valve
directs and redirects sound energy
All vowels and oral consonants produced with velopharyngeal closure
4 types of closure patterns – all types include PPW, LPW, and velar movement
Coronal Velopharyngeal Valve Closure Pattern
most common pattern
Velum moves up and back (like a bending knee), touching the PPW
PPW may move forward
LPWs move medially to touch the velum (movement is minimal)
Circular Velopharyngeal Valve Closure Pattern
second most common pattern
All velopharyngeal structures move
Velum moves posterior, lateral walls move medially, and PPW moves anterior
Circular with Passavant’s Ridge Velopharyngeal Valve Closure Pattern
Passavant’s ridge occurs in typical and atypical speakers
Superior constrictor muscle constricts creating a ridge on the PPW
Sagittal Velopharyngeal Valve Closure Pattern
least common pattern
Lateral walls move medially to meet midline behind the velum
Minimal velar movement
Velar Movement Summary
Velum moves up and back to close velopharyngeal valve during speech
-Also when you sing, vomit, whistle, gag, and suck
Velum bends like a knee but also stretches to reach PPW
Lateral walls move medially to touch velum
PPW moves anterior to meet velum
All movements vary by person
Velopharyngeal insufficiency
velum is too short to close against the PPW
Results in hypernasal resonance because of a STRUCTURAL deficit
Velopharyngeal incompetence
poor movement of the velopharyngeal structures due to physiological deficits
Results in hypernasal resonance because structures cannot MOVE well
Incomplete Cleft Lip
cleft of the upper lip that doesn’t extend to the floor of the nose
Complete Cleft Lip
cleft extends to floor of the nose
May include a cleft of the alveolar ridge
Unilateral Cleft LIp
cleft on one-side
Bilateral Cleft LIp
cleft on both sides of the upper lip
Submucous Cleft lip
outer layers of skin are intact, but the orbicularis oris muscle is incomplete underneath
Looks like a repaired cleft lip
Complete Cleft Palate
cleft is through uvula, all of the soft and hard palate and alveolus
Unilateral Cleft Palate
one-side of alveolus
Bilateral Cleft Palate
both sides of the alveolus
Incomplete Cleft Palate
cleft is through the uvula, soft and hard palate
Unilateral/Bilateral Cleft Palate
Unilateral – one-side of palate
Bilateral – both sides of palate
Soft palate only – called “central” cleft
Submucous Cleft Palate
palate is covered in tissue/mucosa, but muscles underneath are incomplete
Has 3 features:
- Bifid uvula
- Zone pellucida – located in the central portion of the velum
- A notch at posterior end of hard palate
Occult Submucous Cleft Palate
only visible from the nasal cavity
Cleft Lip Repair
usually completed by 3 months of age
Repair schedule follows a rule of 10:
- Infant must weigh 10 lbs.
- Be at least 10 weeks old
- Have a hemoglobin of at least 10 grams
- Have a white cell count no higher than 10,000
Cleft Palate Repair
usually performed between 12-18 months of age
Repair can be done in 1-2 steps (hard & soft palate)
Early repair (12-18 months) associated with better speech development
Pharyngeal flap
surgical procedure to improve speech production by reducing hypernasal resonance
does not repair a cleft
allows for velopharyngeal closure
Syndrome
A pattern of 2 or more abnormities that are related or have a known or suspected cause
Sequence
2 or more anomalies that occur together, but the second anomaly is caused by the first
Etiologies of Clefts, Sequences, & Syndromes
- Chromosomal abnormalities
- Genetic abnormalities
- Teratogenic agents
- Mechanical influences – in utero crowding
Some clefts are caused by a single factor; others result from a combination of factors
Pierre Robin Sequence
Presents in isolation or with a syndrome
A U-shaped cleft palate may be present
Micrognathia
Glossoptosis:
- This can cause significant breathing problems.
- The infant may need to be closely monitored and/or require tracheostomy
Glossoptosis
Back of tongue rests in airway
Down Syndrome
Chromosomal abnormality
Extra chromosome 21
Cleft lip and/or palate can occur in some cases
Velo-Cardio-Facial syndrome
Genetic Abnormality
Most common syndrome associated with cleft palate
Velar deficits- incomplete cleft palate or submucous cleft palate
Cardio deficits – congenital heart defects
Facial- dysmorphic facial features including microcephaly, narrow palpebral fissures, wide nasal root, bulbous nose, micrognathia, & minor auricular anomalies
Velo-Cardio-Facial Syndrome
Genetic Abnormality
Most common syndrome associated with cleft palate
- Velar deficits- incomplete cleft palate or submucous cleft palate
- Cardio deficits – congenital heart defects
- Facial- dysmorphic facial features including microcephaly, narrow palpebral fissures, wide nasal root, bulbous nose, micrognathia, & minor auricular anomalies
Can present with Pierre Robin Sequence
Speech & language characteristics:
- Compensatory artic errors
- Hypernasal resonance
- Hoarse voice & high pitch
- Language delay
- Learning disabilities
- Psychiatric disorder
Van der Woude Syndrome:
Genetic Abnormality
Facial features:
- Variable cleft lip and/or palate
- Congenitally absent premolars
- Lower lip pits
Speech and language characteristics:
- Hypernasal resonance
- Compensatory artic errors
Treacher Collins Syndrome:
Genetic Abnormality
Facial – hypoplastic zygomatic arches, macrostonia, and narrow vocal tract
Eyes - downward slanting palpebral fissures and lower eyelid fissures
Ears – microtia
Pierre Robin Sequence may co-occur
Speech, Hearing, and Language characteristics:
- Conductive hearing loss
- Speech disorders
- Resonance issues
Stickler Syndrome
Facial- incomplete cleft palate or submucous cleft palate
Eyes – nearsightedness
Joints- early onset arthritis
Scoliosis
Pierre Robin Sequence- commonly co-occurs
Speech, hearing, and language characteristics:
- Sensorineural hearing loss
- Hypernasal resonance
- Compensatory artic errors
Fetal Alcohol Syndrome
Result of Teratogen Exposure in utero
Facial- microcephaly, short palpebral fissures, short nose, flat philtrum, and thin upper lip
Can present with cleft lip and/or palate
Cardio- congenital heart defects
Pierre Robin Sequence- commonly co-occurs
Speech, hearing, and language characteristics:
- Chronic ear infections
- Compensatory artic errors
- Hypernasal resonance
- Learning disabilities
- Other deficits: prenatal and postnatal growth deficits, intellectual disability, and behavior problems
Non-Syndromic Clefts
Usually exhibit typical cognitive and language abilities
May demonstrate language delay early in life, but these children typically catch-up to peers over time
Hearing deficits must be addressed
Syndromic Clefts
Children with syndromes most at risk for cognitive and language development issues
Isolated cleft palate is more commonly associated with cognitive and/or language disorders
Speech Concerns
Children with isolated cleft lip and/or palate typically develop normal articulation and resonance after repair
Children that do NOT receive team-based care at infancy are more likely to demonstrate long-term speech disorders
Speech sound/articulation errors may be related to source:
- Developmental delay
- Hearing loss
- Malocclusion
- Palatal fistula
- Velopharyngeal insufficiency or incompetence
Obligatory Speech Errors
The result of structural deficits
Nasal air emission, consonants, and short utterances
Can only be changed by repairing the underlying structural deficit
Compensatory Speech Errors
Learned errors in response to reduced intraoral air pressure for speech
Maintain manner, but place of articulation is altered
Examples: glottal stops/stop consonants, pharyngeal fricative, and nasal snort for /s, z/
These errors can be modified
Speech evaluation should include production of nasal and nasal-free words and sentences
