SYNDROMES ASSOCIATED WITH CLEFTING
About 1/2 of children with some form of clefting have one or more associated anomalies
Syndrome: A group of symptoms regularly occurring together and appear to have a related cause
Over 250 known syndromes which include clefting
Etiology and Syndromes
Environmental factors
Environmental Factors
Utero exposure to drugs / chemical agents
Physical agents
radiation
heat
intrauterine constraint
abnormal uterine shape
multiple births
Maternal infections
Environmental Factors
TERATOGEN
an agent known to cause a defect or raise the incidence
known teratogens
ethyl alcohol
some anticonvulsant medications
Accutane
maternal diabetes
Genetic Factors
Genetic Conditions
- chromosomal abnormalities
- single gene (monogenic) abnormalities
Multifactorial Inheritance
Interaction of
Syndromes Associated with Cleft Palate
Pierre Robin or Robin Sequence
Small mandible interferes with descent of the tongue
Cleft secondary to embryo’s small mandible
Primary Features
mandibular hypoplasia (micrognathia)
glossoptosis (retrusion of tongue)
digital anomalies
eye/ear defects
developmental deficiencies
Syndromes Associated with Cleft Palate
Primary features (cont.)
Airway obstruction
Pierre Robin or Robin Sequence
Often part of another syndrome
Stickler Syndrome
autosomal dominant
myopia
retinal detachment
cataracts
Syndromes Associated with Cleft Palate
Apert Syndrome (Acrocephalosyndactyly)
craniosynostosis (premature cranial closure)
syndactyly (webbing of fingers/toes)
high, steep, broad forehead
back of skull is flattened
hypertelorism with downward slant
exophthalmos
beak-like nose
midfacial deficit
Syndromes Associated with Cleft Palate
Apert Syndrome (cont.)
narrow pharyngeal airway
facial asymmetry
crowded teeth
Palatal involvement
hard palate
high
narrow
Syndromes Associated with Cleft Palate
Apert Syndrome: Palatal involvement (cont.)
clefts of hard palate are rare
30% have clefts of the soft palate
proportions of palates are unusual
hard palate is short
soft palate is longer, thick
Incidence
1/169,000 live births
high infant mortality rate; 1/2,000,000 survive
Syndromes Associated with Cleft Palate
Apert Syndrome (cont.)
Etiology
5th to 6th week of pregnancy
defect in the tissues which separate the bones; neural crest cells
tendency for the father to be older
autosomal dominant
Syndromes Associated with Cleft Palate
Apert Syndrome (cont.)
Risks, Disabilities
psychosocial problems
functional limitations
conductive hearing loss
cognitive deficits - if cranial sutures close early
sleep apnea; chronic fatigue
hypoplasia of face, dental malocclusions
Syndromes Associated with Cleft Palate
Apert Syndrome (cont.)
Associated communication disabilities
language delays commensurate with cognitive disabilities
hyponasality; cleft may mask the hyponasality
tongue protrusion
chronic mouth breathing
distortion of sibilants
vowel distortion
Syndromes Associated with Cleft Palate
Apert Syndrome (cont.)
Communication management
behavioral therapy has poor prognosis
surgical reconstruction of midface to improve maxilla and mandible relationship
Syndromes Associated with Cleft Palate
Crouzon Syndrome (Craniofacial Dysostosis)
less severe than Apert syndrome
midfacial hypoplasia
upper lip short, lower lip droops
beak-like nose
shallow orbits; exophthalmos secondary
hypertelorism
80% have optic nerve defects
Syndromes Associated with Cleft Palate
Crouzon Syndrome (cont.)
cranial dysmorphia
palate
open bite
malocculusions
reduced pharyngeal airway
Syndromes Associated with Cleft Palate
Crouzon Syndrome (cont.)
Etiology
autosomal
Risks and Disabilities
psychosocial problems
conductive hearing loss
cognitive deficits depending on cranial closure
Syndromes Associated with Cleft Palate
Crouzon’s Syndrome (cont.)
Communication concerns
continuum of disabilities
some people have little disability
some people have severe disabilities
Syndromes Associated with Cleft Palate
Treacher Collins Syndrome (Mandibulofacial dysostosis, Franceschetti-Zwahlen-Klein Syndrome)
Characteristics
malar hypoplasia
macro- or micro-stomia
malformation of auricles, external auditory canal
cleft palate
Syndromes Associated with Cleft Palate
Treacher Collins Syndrome (cont.)
Characteristics
downward slant of palpebral fissures
defect of lower eyelid
scalp hair on cheek
skin tags between ear and mouth
usually no cognitive deficits
Etiology
autosomal dominant
60% are fresh mutations
occur at about 7th embryonic week
Syndromes Associated with Cleft Palate
Treacher Collins Syndrome (cont.)
Risks and disabilities
spontaneous abortion or early post-natal mortality
sleep apnea
psychosocial problems
conductive hearing loss
communication problems associated with hearing loss or cleft palate
Syndromes Associated with Cleft Palate
Hemifacial microsomia (Facio-auriculo-vertebral spectrum)
Characteristics
facial asymmetries, dysmorphia
malar hypoplasia (maxillary/ mandibular regions)
hypoplasia of facial musculature
microtia
middle ear anomalies
muscular dysfunction of tongue and velum
clefts of lip w/ or w/o cleft palate and cleft palate
renal and/or heart malformations
usually normal cognitive abilities
Syndromes Associated with Cleft Palate
Hemifacial microsomia (cont.)
Characteristics
clefts of lip w/ or w/o cleft palate and cleft palate
renal and/or heart malformations
usually normal cognitive abilities
Syndromes Associated with Cleft Palate
Hemifacial microsomia (cont.)
Etiology
facial dysmorphia due to deficiencies in first and second branchial arches
incidence
1/3,000-5,000 births
male to female = 3:2
Syndromes Associated with Cleft Palate
Hemifacial microsomia (cont.)
Risks and disabilities
psychosocial factors
conductive hearing loss
Communication problems
depend on extent of facial anomaly
articulation
resonance
Syndromes Associated with Cleft Palate
Shprintzen Syndrome (Velo-cardio-facial syndrome)
Characteristics
language deficits
learning disabilities
palatal clefts
congenital velopharyngeal incompetence
small in stature
prominent broad nose
Syndromes Associated with Cleft Palate
Shprintzen Syndrome (Velo-cardio-facial syndrome)
Characteristics
narrow palpebral fissures
malar deficiencies
vertical maxillary excess; long face
retruded chin
malocculusions
microencephaly (40-50%)
Syndromes Associated with Cleft Palate
Shprintzen Syndrome (Velo-cardio-facial syndrome)
Characteristics
slender hands and digits
cardiac anomalies (84%)
hypotonia in infants
Etiology
autosomal dominant
Syndromes Associated with Cleft Palate
Shprintzen Syndrome (Velo-cardio-facial syndrome)
Risks and Disabilities
psychosocial problems
conductive hearing losses
cognitive deficits
Communication disorders
delayed onset of language
speech associated with clefts and CPI
complicated by motor impairments