6B: Cleft Lip and Palate

Craniofacial abnormality

• An abnormality of the face and/or head

• Abnormal growth patterns in soft tissue and bones

Cleft

• Abnormal opening in an anatomical structure

• Due to disruption in embryological (prenatal) development

  • Usually follows normal embryological fusion lines

Cleft lip and/or palate

• Craniofacial anomaly/abnormality

• Congenital malformation involving head and face

What is a cleft?

• Elongated opening, resulting from failure of parts of mouth to fuse or merge

  • All structures present but may be under-developed

• Occurs in utero during 1st trimester of pregnancy (1st 12 weeks)

• Interferes with basic biological functioning and communication

  • At risk for problems with aesthetics, feeding, speech, resonance and hearing

Facial Embryology

• Development of face/ anterior aspects of mouth occurs during embryonic period (5-8 weeks gestation)

• In normal development, facial tissues and bones grow toward midline and lips fuse together

Palatal Embryology

• 8-12 weeks gestation: Lip and palate meet at midline and develop from front (lip) to back (uvula)

• Lips fuse ~week 6 and soft palate fuses by week 12

• Degree of clefting related to amount of embryonic damage to lip and palate

• shows on ultrasound

Cleft lip occurance type

• Cleft of lip and palate = 50%

• Cleft of lip = 25%

• Cleft of palate = 25%

Characteristics of cleft lip and palate

• occurs in one of every 750 live births

• Varies according to racial group (most common in first nation and asian populations)

• Varies according to sex

  • 2:1 males to females have cleft of lip with or without cleft palate

  • 2:1 females to males have isolated cleft palate

Cleft Lip types

• Unilateral cleft lip (1 side of face, usually left)

• Bilateral cleft lip (2 sides of face)

• Complete cleft lip (runs right up into nose)

• Incomplete cleft lip (does not go into nose)

• Microform cleft

  • Small indentation in vermillion (mini)

characteristics…

• Involves vermilion of upper lip and can extend to nostril

• Can have flattened nose, flaring nostril

• Columella short, misaligned

• Most commonly left unilateral

• If bilateral, usually also a cleft palate (*Isolated cleft of lip is rare)

Cleft Palate

• Complete cleft palate

  • Involves both hard and soft palate

  • Extends through to uvula

• Incomplete cleft palate

  • Cleft of soft palate and uvula only

  • Hard palate fully developed

Submucous cleft palate

• Cleft of muscular region of the soft palate

• Thin layer of mucosal tissue covers cleft

• Signs

  • Bifid uvula

  • Notch in hard palate

• effects uvula function. in speech (hyponasality)

Isolated Cleft Palate

• Can occur with or without cleft lip

  • Unilateral complete cleft of lip and palate

  • Extends from external portion of upper lip through the hard and soft palate

• Bilateral cleft of lip and palate

  • Most severe because of lack of tissue

• Isolated cleft palate frequently associated with syndromes

What causes cleft lip and/ or palate

• Multifactorial causation

  • Majority due to combined genetic and environmental factors

• Known etiologies

  • Chromosomal and genetic disorders

    • E.g., Pierre-Robin sequence, velocardiofacial syndrome

  • Family history

• Environmental factors that increase risk of CL/P

  • Teratogens in utero,

    • e.g., Nicotine, alcohol, dilantin, thalidomide, viruses, x-rays

  • Maternal nutritional deficiencies

  • Risk higher among teen pregnancies and those with increased parental age (both parents > 35)

Team management

• Individuals with CL/P often demonstrate multiple complex issues, including

  • early feeding and nutritional problems

  • dentofacial and orthodontic abnormalities

  • hearing loss

  • speech and resonance issues

  • aesthetic issues

    *Requires cooperation among many professionals

Typical Team composition

• Audiology

• Genetics

• Orthodontist

• Otolaryngology

• Pediatrician

• Pediatric dentist

• Psychology/social work

• Speech-language pathology

• Surgery

Assessment

1. Feeding

2. Dentition

3. Hearing

4. Communication

Feeding

• CL/P can impact infant’s ability to suck and swallow

• Ability to squeeze nipple with lips between tongue and alveolar ridge

• Ability to maintain suction during swallowing

• May require obturator (prothstetic palette)

Dentition

• May have missing or malformed teeth

  • Particularly when cleft affects alveolar ridge

• Maxillary retrusion common (25%)

  • Orthognatic surgery

Hearing

• At risk for middle ear infection due to Eustachian tube dysfunction (habitually open instead of closed)

• Screen hearing every 3-6 months

• Pressure Equalization (PE) tubes if necessary

Communication

*About 50% will require speech-language therapy

a) History

b) Oral mechanism evaluation (OME)

c) Voice/resonance

d) Articulation

Communication Assessment: History

• Surgery/surgeries

• Nasal regurgitation

• Swallowing difficulties

• Milestones

• Parent concerns and priorities

• VPI clinic

• Team

Communication Assessment: OME

• Examine structures and functions of the face, ears, nose, lips, tongue, alveolus, hard/soft palates, uvula, tonsils, pharynx

• Examine dentition and occlusion

Communication Assessment: Voice and Resonance

• Difficulty regulating airflow through the nasal cavity

  • Ability to regulate air flowing through nasal cavity during speech production aka resonance

  • Cleft palate leads to velopharyngeal insufficiency (VPI), which leads to hypernasal speech

Assessing nasal speech

• Mirror below nose (gets foggy after saying a non-nasal word)

• Listening & rating

• Endoscope

• Measuring nasal airflow with a nasometer

Communication assessment: Articulation

• Due to VPI, consonants normally produced in oral cavity now influenced by nasal cavity

• Surgery can often help

• Persistent problems can include

  • Nasal emission

  • Stop consonants (/p, t, k, b, d, g/)

  • Fricative consonants (/s, z, f, v, th, sh/)

• Compensatory articulation errors

  • Glottal stop

  • Pharyngeal, lateral fricatives

Typical treatment timeline

Treatment: Surgery

• Decisions about repair based on facial growth, speech development, and psychological impact

• Structural repair of lip and palate

• Pharyngeal flap or sphincter pharyngoplasty to support VP function

• Lip repaired at 3 months (feeding)

• Palate repaired 9-15 months (speech)

Treatment: Dental

• Orthodontics for malocclusions

• Prosthodontics,

  • e.g., obturator, speech bulb (pushes velum up higher), palatal lift

Treatment: Hearing

• Preventative or therapeutic insertion of myringotomy tubes for otitis media

Treatment: Speech-Langauge Therapy

• <10% have a communication disorder following surgical repair of cleft

• Major focus typically on reducing hypernasal resonance

• Articulation goals may include differentiation between oral/nasal sounds, reduction of glottal stops, etc.

• Methods

  • Traditional articulation therapy approach

  • Visual feedback via electropalatography

Treatment: Psychology

• Psychosocial issues

• Teasing/bullying – education/counselling

• Issues with education

• May result in behavioural problems, depression, and anxiety