1
Q
Craniofacial Syndromes - -Children with clefts often have -They often involve -Many involve -Half of patients
A
- Hundreds are associated with clefting.
- Children with clefts often have other malformations due to a syndrome (especially with CPO or VPI).
- They often involve oral, pharyngeal, laryngeal structures and ear.
- Many involve malformation of cranium/brain.
- Half of patients with craniofacial syndromes have DD, LD, neurologic or cognitive disorders.
2
Q
Craniofacial Anomalies
-Effect on communication:
A
- -Articulation—malocclusion, restricted oral cavity, lingual anomalies, VPD, hearing loss, learning problems, and mental disability
- -Language—hearing loss, learning problems, and mental disability
- -Resonance—VPD, abnormalities in the shape and size of cavities of the vocal tract
3
Q
Genetics Evaluation
9
A
Prenatal history Medical history Developmental history Feeding history Family history Physical examination Laboratory and imaging studies Genetic counseling Psychosocial counseling
4
Q
Syndrome Identification
Importance for patient care
A
Importance for patient care:
- Allows providers and caregivers to plan appropriate treatment and have realistic goals
- Can anticipate problems through natural history of syndrome
- Can determine a recurrence risk
- Is important for genetic counseling for family planning
5
Q
prenatal history is..
exposure to ___ can increase risk of …
A
- Prenatal history is important to know.
- Exposure to teratogens can increase risk for craniofacial anomalies.
6
Q
Medical History
Why do we need it?
A
- Complications before, during, and after birth must be noted.
- Medical history is important for diagnosing a syndrome and for providing proper treatment for older children.
7
Q
Developmental History
What to note
A
Note milestones, therapies, and progression in school.
8
Q
Feeding History
A
- Problems are common in infants who have a cleft palate.
- Feeding history is important for management of feeding in older children.
9
Q
Family History
Create a…
A
- Pedigree—a pictorial representation of family members and their line of descent
- Create a pedigree of family out to four generations.
10
Q
Physical Examination
check for..
include a …
examine what?
A
- Check for microcephaly.
- Include a dysmorphology examination (nonhereditary features).
- Examine early and present photographs of the client and family members for similarities.
11
Q
Laboratory and Imaging Studies
what do both do?
A
Laboratory studies:
- -Help make a diagnosis.
- -Confirm a clinical suspicion.
Imaging studies:
–Identify bone maturation and structural anomalies.
12
Q
Genetics Scheduling
what do they do?
A
- Educate the family about hereditary factors and development.
- Provide referrals to school and community services, if necessary.
- Discuss recurrence risks.
13
Q
Psychosocial Effects
3 fundamental problems?
A
-Patients with craniofacial syndromes often have three fundamental problems:
- They look abnormal.
- They sound abnormal.
- They often have learning problems.
14
Q
Effects on the child (psychosocial)
A
- Poor self-esteem
- Anxiety
- Behavioral problems
- Social introversion
15
Q
Effects on family members (psychosocial - 3rd party disability)
A
- Strain emotionally and financially
- Often causes problems for siblings and marital problems
16
Q
Dysmorphology
malformation vs deformation
A
- Malformation—due to a genetic etiology
- Deformation—due to abnormal mechanical forces on an otherwise normal structure
17
Q
Dysmorphology
Amnion—
Amniotic bands—
A
-Amnion—the membrane surrounding the embryo and fetus
- Amniotic bands—strands of tissue floating in the amniotic cavity
- -Can attach to limbs, the head, or other body parts and act as tourniquets
- -Causes deformations
- -can be dangerous
18
Q
Syndromes, Associations, and Sequences
definitions of each
A
Syndrome—pattern of multiple anomalies that are pathogenically related
Association—a nonrandom occurrence of a pattern of multiple anomalies in two or more individuals that is not a known syndrome or sequence
Sequence—a series of anomalies that result from a single initiating event, anomaly, or mechanical factor
19
Q
Pierre Robin Sequence***
in utero:
mandible
tongue
palatal shelves
A
In utero:
- Mandible is small or does not grow down and forward
- Tongue remains in superior/posterior position
- Palatal shelves and velum cannot close because the tongue is in the way
- This causes a bell-shaped cleft palate and glossoptosis
20
Q
Pierre Robin Sequence
triad of characteristics
A
Triad of characteristics: Micrognathia—small mandible Glossoptosis—base of tongue retruded in pharynx Wide bell-shaped cleft palate Secondary airway obstruction at birth
21
Q
Pierre Robin Sequence
-micrognathia …
can be due to…
A
- Micrognathia
- -Can be genetic as part of a syndrome (malformation)
- —Stickler’s syndrome, velocardiofacial syndrome, etc.
- Can be due to external mechanical interference in utero (deformation)
- -Multiple babies
- -Polyhydramnious
22
Q
Pierre Robin Sequence
early problems with the airway
A
- Early Problems—Airway
- -Tongue is in the pharyngeal space.
- -Inspiration causes negative pressure.
- -Negative pressure can cause pharyngeal collapse during sleep, resulting in sleep apnea.
23
Q
Pierre Robin Sequence
treatment - airway
A
- Treatment—Airway
- -Laying child in prone position
- -Glossopexy—suturing tongue to bottom lip
- Tracheostomy
- Distraction osteogenesis (fracture skull and pull mandible forward)
24
Q
Pierre Robin Sequence
Additional Problems
A
- Additional Problems
- -Feeding
- Hearing Loss
- Risk for speech problems
25
Genetics of Nonsyndromic Cleft Lip w/wo Cleft Palate
recurrence risk
racial differences
which side is more common
-Recurrence risk for parents and child is 3% to 5%.
- Racial differences (highest to lowest):
- Indigenous American Indians
- Asians
- Caucasians
- African descent
-Left-sided cleft lip is more common than right-sided.
26
Genetics of Syndromic Cleft Lip w/wo Cleft Palate
Over ____ are associated with facial clefts.
- Over 400 syndromes are associated with facial clefts.
| - Cleft palate (without cleft lip) is much more likely to be associated with a syndrome or other congenital anomalies.
27
Genetics of Cleft Palate Only
-About half of children with cleft palate only have a syndrome or other associated anomalies.
28
Beckwith-Wiedemann Syndrome
2 characteristics
- Hypertrophic (large) features
- Macroglossia—large tongue
- -Treatment with a partial glossectomy
29
Beckwith-Wiedemann Syndrome
2 characteristics (at risk for)
```
Organ macromegaly (large organs)
At risk for Wilms tumors (kidney cancer)
```
30
CHARGE Syndrome**
acronym..
```
Coloboma
Heart defect
Atresia (choanal)
Retarded growth/development
Genitourinary anomalies
Ear anomalies/deafness
```
31
Fetal Alcohol Syndrome
- Common cause of Pierre Robin Sequence and cleft palate
| - Distinct facial features and other birth defects
32
Hemifacial Microsomia
also called...
Also called:
Facioauriculovertebral (FAV) syndrome
Goldenhar syndrome
Oculoauriculovertebral Dysplasia
33
Hemifacial Microsomia
characteristics..
- Unilateral lack of development (hypoplasia - underdevelopment) malar, maxillary, mandibular processes
- Cleft-like extension of corner of mouth
- May have unilateral velar paresis or paralysis
34
Hemifacial Microsomia
hearing characteristics
- Microtia/anotia—small or absent external ear or middle ear anomalies
- Preauricular tags or pits
- Hearing loss
35
Kabuki
characteristics
- Wide palpebral fissures with eversion (turning out) of the lateral portion of the lower lid
- Ear anomalies
- Broad nasal tip
- Cleft palate or submucous cleft
36
Neurofibromatosis I (NF1)
characteristics
- Café au lait macules—pigmented spots
- Neurofibromas
- Velopharyngeal dysfunction
37
Opitz Syndrome
___cleft lead to swallowing issues...
opitz syndrome may require...
- Laryngeal cleft leads to swallowing issues, aspiration pneumonia, and speech problems.
- Opitz syndrome may require an extended period of time with a tracheostomy.
38
Orofacial
general characteristics
```
Hypertelorism
Dry skin
Mental disability
X-linked dominant
Lethal in males
```
39
Orofacial Digital (OFD) Syndrome
oral characteristics
Lobulated tongue
Notching in alveolar ridge
Multiple hyperplastic frenula
High or cleft palate
40
Stickler Syndrome
```
-Pierre Robin Sequence plus:
-
-
-
-
-
-
```
- Pierre Robin Sequence plus:
- -Skeletal abnormalities
- -Juvenile arthritis and joint disorders
- -Myopia and eye abnormalities
- -Sensorineural hearing loss
- -Wide, flat face
- -Autosomal dominant condition
41
Treacher Collin Syndrome**
Characteristics
- Downward slant of eyes
- Hypoplastic malar and zygomatic bones
- Coloboma of lower eye lids
- Microtia or small ears
- Macrostomia or microstomia (mouth)
- Middle ear anomalies, conductive hearing loss
- Micrognathia
- May have Pierre Robin Sequence
42
Trisomy 13
results in...
may have...
- Results in severe birth defects affecting the brain and heart
- Many have clefts in the midline of the lip and face
43
Van Der Woude Syndrome**
characteristic
autosomal ___
- Cleft lip/palate with bilateral lip pits on lower lip
| - Autosomal dominant—50% risk of recurrence
44
Velocardiofacial Syndrome (VCFS) (one of the most common associated with cleft palate)
AKA
Also known as:
Shprintzen syndrome
DiGeorge syndrome
22q11.2 syndrome
45
Velocardiofacial Syndrome (VCFS)
```
Basic phenotypic Features.
velo-
cardio-
facial-
other-
```
Basic Phenotypic Features
- Velo: velopharyngeal dysfunction
- Cardio: minor cardiac, vascular anomalies
- Facial: dysmorphic facial features
- Other: learning disabilities, oral motor dysfunction, psychological concerns, other medical problems
46
Velocardiofacial
variable expressivity
- Variable Expressivity
- - Can exhibit many of the typical characteristics or only a few
- - Most commonly characterized by abnormal speech
47
Velocardiofacial Syndrome (VCFS)
velopharyngeal dysfunction
Velopharyngeal Dysfunction
- Cleft of the soft palate
- Submucous cleft
- Occult submucous cleft
- Pharyngeal hypotonia
48
```
Velocardiofacial Syndrome (VCFS)
Cardiac Anomalies
```
Cardiac Anomalies
- Ventricular septal defect (VSD)
- Atrial septal defect (ASD)
- Patent ductus arteriosus (PDA)
- Pulmonary stenosis
49
Velocardiofacial Syndrome (VCFS)
Vascular Anomalies
Vascular Anomalies
- Right-sided aortic arch
- Tortuosity of retinal blood vessels
- Medially displaced internal carotid arteries
50
Velocardiofacial Syndrome (VCFS)
Facial features
Facial features
- Long, narrow face with vertical maxillary excess
- Narrow palpebral fissures
- Flattened malar eminences
- Broad nasal bridge with narrow alar base and bulbous nasal tip
- Thin upper lip
- Micrognathia or retruded mandible, often with Class II malocclusion
- Minor auricular anomalies
- Abundant scalp hair
- Microcephaly
51
VCFS
PHYSICAL FINDINGS
Common Physical Findings
- Small stature
- Usually below the 10th percentile in weight and height
- Long, slender fingers
- Hyperextensibility of the joints
52
VCFS
Medical problems
Pierre Robin Sequence (cleft palate, micrognathia, glossoptosis with airway obstruction)
Laryngeal web
Umbilical or inguinal hernias
53
VCFS
Functional problems
Common Functional Problems
Early feeding problems
Gross and fine motor dysfunction
Conductive or sensorineural hearing loss
Outgoing personality with social disinhibition
Risk of onset of psychosis in adolescence
54
VCFS
Learning and Cognitive Findings
Learning disabilities
Concrete thinking
Mild to moderate mental disability
55
VCFS
| Communication Problems
Hypernasality due to velopharyngeal dysfunction (VPD)
Misarticulations, often due to verbal apraxia
Hearing loss
Language impairment
High-pitched voice
56
VCFS
Etiology
Etiology
Autosomal dominant
Deletion on chromosome 22q11.2
57
VCFS
Diagnosis
Diagnosis
FISH (fluorescence in situ hybridization) probe
Looks for the specific deletion in 22q11.2 area of the chromosome
58
Wolf-Hirschhorn Syndrome
distinct facial features
Distinct facial features include
Hypertelorism: wide-spaced eyes
Prominent nasal bridge
Cleft lip and/or palate
59
Craniosynostosis Syndromes
characteristics
Premature closure of cranial sutures
Causes distortion of skull with growth
Can cause increased intracranial pressure and brain damage if not treated
60
Apert Syndrome
characteristics
Facial characteristics similar to Crouzon
- Cleft of velum in 30% of cases
- Syndactyly—webbing of digits
- Autosomal dominant—50% recurrence risk
- Often have mild to moderate mental -disability
61
Crouzon Syndrome
- Coronal synostosis
- Skull grows horizontal, not vertical
- High, broad forehead, flat occiput, flat face
- Hypertelorism—wide spaced eyes
- Antimongoloid slant—downward slant
- Exopthalmos—protruding eyeballs
- Midfacial retrusion resulting in a compromised airway
- Normal intelligence
62
Pfeiffer Syndrome
Classic or Type 1
Types 2 and 3
-Severity of craniofacial anomalies depends on which gene is mutated
- Classic or Type 1
- -Cleft palate is rare
- -Cleft lip is not associated with Pfeiffer Syndrome
- Type 2 and Type 3
- -Features are more severe
- -Hearing loss
- -Death in childhood is common
63
Saethre-Chotzen Syndrome
- Features are quite variable.
| - Cleft palate and submucous cleft palate are present in only a small number of patients.
64
- Complete genetics evaluation is crucial for a correct diagnosis.
- Collaborative team effort will provide the best outcome for the child.
- Complete genetics evaluation is crucial for a correct diagnosis.
- Collaborative team effort will provide the best outcome for the child.
Cleft Palate
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