Cleft Lip and Palate and Craniofacial Overview Anna Thurmes, M.A. University of Minnesota 612-626-3478 [email protected]

Objectives „ Introduction

anomalies

to cleft / craniofacial

– Types of cleft and craniofacial anomalies – Etiology and genetics – Overview of treatment „ Purpose

and nature of interdisciplinary team care

Cleft lip and palate is a congenital disorder that can be seen, felt, and heard

Janus, the ancient god of Roman mythology, had two faces. One looked at the beginning; one looked to the future. Treatment for cleft lip and palate has a similar perspective. We need to view these disorders from their beginning, birth, but equally, must look to the child’s future as an adult and plan for the optimal outcome.

The family, and later the child, need to be wellinformed and actively involved in management of decisions.

Long Range Nature of Management „Treatment

will begin immediately after birth and will continue to age 16-20 before the final treatment, directly related to the cleft, is completed.

Growth and Development „The

most appropriate treatment is associated with the child’s growth and development- both physical and behavioral

„The

most effective, efficient, and cost-saving management is provided by the interdisciplinary approach. No one person has the expertise to address the range of concerns for persons with cleft lip and palate.

Role of the Interdisciplinary Clinic „ Medical,

surgical, dental, speech and hearing evaluations „ Follow-up evaluations and treatment recommendations „ Coordination and facilitation of treatment in their local community ……..over many years

Interdisciplinary Team: Cleft Palate Clinic „ „ „

„ „ „

Director / Coordinator Pediatric Nurse Practitioner Plastic and Reconstructive Surgeon Otolaryngologist Audiologist Geneticist

„ „ „ „ „ „

Speech-Language Pathologist Oral and Maxillofacial Surgeon Pediatric Dentist Dental Hygienist Orthodontist Maxillofacial Prosthodontist

Our Function „ „ „ „ „ „ „

Diagnosis and evaluation Discussion of findings Treatment planning (priorities and coordination) Communication with patient / family Communication with care providers Facilitation of treatment in local community Follow-up on treatment …………over many years

Goals of Management „Acceptable

appearance – facial form and function „Acceptable speech and communication skills „Acceptable dental / occlusal form and function

Treatment Protocol: University of Minnesota „ „

„

„

„

Lip repair: 3 months – Nasoalveolar molding Palate repair: 9-12 months – One stage – Von Langenbeck, Wardill, Furlow – SMCP Lip nasal revision (stages of repair) – Dependent on physical and behavioral growth and development – Columellar lengthening Alveolar repair – Autogenous bone grafting – Timing? Ages 5-9. Specific timing dependent on tooth development, fistulae, speech – Orthodontic treatment Septoplasty – Adolescent years

Treatment Protocol at University of Minnesota continued… „

Other – Orthognathic surgery: ~25-30% – Secondary speech (pharyngeal flap, sphincter, pharyngoplasty, Furlow): ~20% – Speech prosthesis – Ventilation tubes in ears: 90-100%

„

Each person with a cleft is unique. The most appropriate treatment is patient specific.

Etiology / Genetics „ Isolated

cleft of primary palate with or without secondary palate; isolated cleft of secondary palate – Multifactorial (polygenic) „ 400+ syndromes include clefting – Autosomal dominant, recessive, xlinked

Interdisciplinary Team: Craniofacial Clinic „ „ „ „ „ „ „ „ „ „

Director / Coordinator Pediatric Nurse Practitioner Craniofacial Surgeon Plastic & Reconstructive Surgeon Neurosurgeon Ophthalmologist Otolaryngologist Audiologist Clinical Psychologist Neuropsychologist

„ „ „ „ „ „ „

Speech-Language Pathologist Oral Maxillofacial Surgeon Pediatric Dentist Orthodontist Maxillofacial Prosthodontist Developmental & Behavioral Pediatrician Geneticist

Individual Examinations Interdisciplinary Conference Treatment Planning Discussion with Patient and Family Report of Findings, Recommendations and Treatment plan to Providers

Craniosynostoses- Syndromic „ „ „ „ „ „ „ „ „

Apert (acrocephalosyndactyly) Crouzon Pfeiffer Saethre-Chotzen Jackson-Weiss Carpenter (acrocephalopolysyndactyly) Antley-Bixler Baller-Gerold Cloverleaf skull (Kleeblattschadel)

Crouzon „ Autosomal

dominant- variable expressivity: 1 / 25,000 „ Midfacial / maxillary hypoplasia „ Recessed frontal bone „ Proptosis (exophthalmus, exorbitism) „ Hypertelorism „ Normal intelligence

Ocul-Auriculo-Vertebral Spectrum „ Non-genetic;

extreme variability „ Facial asymmetry (hypoplastic mandible, malar, temporal, maxilla) „ Epibulbar dermoids, colobomas „ Ear canal atresia, malformed external ear, ear tags „ Cleft lip / palate (7-15%)

Mandibulofacial Dysostosis (Treacher Collins) „ „ „ „ „ „ „ „

Autosomal dominant, variable expressivity Hypoplastic malar bones Downward slant to eyes Shovel-shaped lower border of mandible Severe malocclusion Malformed external and middle ear (conductive hearing loss) Normal Intelligence Cleft palate in 25-35%

Frontonasal Malformation

(frontonasal dysplasia; median cleft face syndrome)

„ Non-genetic

(variable expressivity) „ Hypertelorism- constant feature „ Broad nasal bridge; cleft nose „ Bifid cranium „ Normal intelligence

Van der Woude Syndrome (lip pit syndrome)

„ Autosomal

dominant „ Cleft lip / cleft palate or cleft palate „ Lip pits- depressions (blind sinuses) that descend through orbicularis muscle to a depth of 1-3 cm and communicate with salivary ducts

Velocardiofacial Syndrome „ A.K.A.:

DiGeorge Syndrome: 1 in 4000

births „ Includes both physiologic/cognitve deficits „ Physical:

– Cleft Palate &/or Velopharyngeal inadequacy – Cardiac or carotid artery anomalies – Defined facial features – 22q11 chromosome deletion; detected by FISH – HIGHLY VARIABLE

Velocardiofacial Syndrome „ Cognitive

learning deficits

– low normal to MMMR „ Speech

and language development

– delayed feeding / oral-motor skills – apraxia and hypotonia – velopharyngeal inadequacy „ Psychiatric

problems „ Slow progress re: behavioral / physical tx

VCFS: Velopharyngeal Issues z z z z z

Cleft palate Muscle hypoplasia Hypotonia Adenoid hypoplasia VPI postadenoidectomy

z z z

Obtuse cranial base, deep retropharynx Short velum Adynamic VP mechanism

Adriane Baylis, 2003

Facial Features of VCFS • Long face, vertical maxillary excess • Malar flatness • Mandibular retrusion/retrognathia • Prominent nose • Narrow palpebral fissures • “bland affect” • Variability Adriane Baylis, 2003

The Faces of VCFS

Team Future „ „ „

Third party payers will mandate team evaluation Center vs. private sector treatment (information sharing) Clinical Outcome: – Measures? (appearance, function, speech intelligibility) – Outcomes management- “the effect of treatment on patients’ well-being” - Paul Ellwood – Patient / family satisfaction must be a part of the outcome assessment