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Cleft Palate > Cleft 3 > Flashcards

Cleft 3 Flashcards

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.
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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
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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
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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
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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.

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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.
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7
Q

Developmental History

What to note

A

Note milestones, therapies, and progression in school.

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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.

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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.
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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.
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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.

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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.
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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.
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14
Q

Effects on the child (psychosocial)

A
  • Poor self-esteem
  • Anxiety
  • Behavioral problems
  • Social introversion
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15
Q

Effects on family members (psychosocial - 3rd party disability)

A
  • Strain emotionally and financially

- Often causes problems for siblings and marital problems

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16
Q

Dysmorphology

malformation vs deformation

A
  • Malformation—due to a genetic etiology

- Deformation—due to abnormal mechanical forces on an otherwise normal structure

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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
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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

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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
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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
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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
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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.
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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)
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24
Q

Pierre Robin Sequence

Additional Problems

A
  • Additional Problems
  • -Feeding
    • Hearing Loss
    • Risk for speech problems
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25
Q

Genetics of Nonsyndromic Cleft Lip w/wo Cleft Palate

recurrence risk
racial differences
which side is more common

A

-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.

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26
Q

Genetics of Syndromic Cleft Lip w/wo Cleft Palate

Over ____ are associated with facial clefts.

A
  • 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
Q

Genetics of Cleft Palate Only

A

-About half of children with cleft palate only have a syndrome or other associated anomalies.

28
Q

Beckwith-Wiedemann Syndrome

2 characteristics

A
  • Hypertrophic (large) features
  • Macroglossia—large tongue
  • -Treatment with a partial glossectomy
29
Q

Beckwith-Wiedemann Syndrome

2 characteristics (at risk for)

A 
Organ macromegaly (large organs)
At risk for Wilms tumors (kidney cancer)
30
Q

CHARGE Syndrome**

acronym..

A 
Coloboma
Heart defect
Atresia (choanal)
Retarded growth/development
Genitourinary anomalies
Ear anomalies/deafness
31
Q

Fetal Alcohol Syndrome

A
  • Common cause of Pierre Robin Sequence and cleft palate

- Distinct facial features and other birth defects

32
Q

Hemifacial Microsomia

also called…

A

Also called:
Facioauriculovertebral (FAV) syndrome
Goldenhar syndrome
Oculoauriculovertebral Dysplasia

33
Q

Hemifacial Microsomia

characteristics..

A
  • 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
Q

Hemifacial Microsomia

hearing characteristics

A
  • Microtia/anotia—small or absent external ear or middle ear anomalies
  • Preauricular tags or pits
  • Hearing loss
35
Q

Kabuki

characteristics

A
  • 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
Q

Neurofibromatosis I (NF1)

characteristics

A
  • Café au lait macules—pigmented spots
  • Neurofibromas
  • Velopharyngeal dysfunction
37
Q

Opitz Syndrome

___cleft lead to swallowing issues…
opitz syndrome may require…

A
  • Laryngeal cleft leads to swallowing issues, aspiration pneumonia, and speech problems.
  • Opitz syndrome may require an extended period of time with a tracheostomy.
38
Q

Orofacial

general characteristics

A 
Hypertelorism
Dry skin
Mental disability
X-linked dominant
Lethal in males
39
Q

Orofacial Digital (OFD) Syndrome

oral characteristics

A

Lobulated tongue
Notching in alveolar ridge
Multiple hyperplastic frenula
High or cleft palate

40
Q

Stickler Syndrome

-Pierre Robin Sequence plus:
-
-
-
-
-
-
A
  • 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
Q

Treacher Collin Syndrome**

Characteristics

A
  • 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
Q

Trisomy 13

results in…
may have…

A
  • Results in severe birth defects affecting the brain and heart
  • Many have clefts in the midline of the lip and face
43
Q

Van Der Woude Syndrome**

characteristic
autosomal ___

A
  • Cleft lip/palate with bilateral lip pits on lower lip

- Autosomal dominant—50% risk of recurrence

44
Q

Velocardiofacial Syndrome (VCFS) (one of the most common associated with cleft palate)

AKA

A

Also known as:
Shprintzen syndrome
DiGeorge syndrome
22q11.2 syndrome

45
Q

Velocardiofacial Syndrome (VCFS)

Basic phenotypic Features.
velo- 
cardio-
facial-
other-
A

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
Q

Velocardiofacial

variable expressivity

A
  • Variable Expressivity
    • Can exhibit many of the typical characteristics or only a few
    • Most commonly characterized by abnormal speech
47
Q

Velocardiofacial Syndrome (VCFS)

velopharyngeal dysfunction

A

Velopharyngeal Dysfunction

  • Cleft of the soft palate
  • Submucous cleft
  • Occult submucous cleft
  • Pharyngeal hypotonia
48
Q 
Velocardiofacial Syndrome (VCFS)
Cardiac Anomalies
A

Cardiac Anomalies

  • Ventricular septal defect (VSD)
  • Atrial septal defect (ASD)
  • Patent ductus arteriosus (PDA)
  • Pulmonary stenosis
49
Q

Velocardiofacial Syndrome (VCFS)

Vascular Anomalies

A

Vascular Anomalies

  • Right-sided aortic arch
  • Tortuosity of retinal blood vessels
  • Medially displaced internal carotid arteries
50
Q

Velocardiofacial Syndrome (VCFS)

Facial features

A

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
Q

VCFS

PHYSICAL FINDINGS

A

Common Physical Findings

  • Small stature
  • Usually below the 10th percentile in weight and height
  • Long, slender fingers
  • Hyperextensibility of the joints
52
Q

VCFS

Medical problems

A

Pierre Robin Sequence (cleft palate, micrognathia, glossoptosis with airway obstruction)
Laryngeal web
Umbilical or inguinal hernias

53
Q

VCFS

Functional problems

A

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
Q

VCFS

Learning and Cognitive Findings

A

Learning disabilities
Concrete thinking
Mild to moderate mental disability

55
Q

VCFS

Communication Problems

A

Hypernasality due to velopharyngeal dysfunction (VPD)
Misarticulations, often due to verbal apraxia
Hearing loss
Language impairment
High-pitched voice

56
Q

VCFS

Etiology

A

Etiology
Autosomal dominant
Deletion on chromosome 22q11.2

57
Q

VCFS

Diagnosis

A

Diagnosis
FISH (fluorescence in situ hybridization) probe
Looks for the specific deletion in 22q11.2 area of the chromosome

58
Q

Wolf-Hirschhorn Syndrome

distinct facial features

A

Distinct facial features include
Hypertelorism: wide-spaced eyes
Prominent nasal bridge
Cleft lip and/or palate

59
Q

Craniosynostosis Syndromes

characteristics

A

Premature closure of cranial sutures
Causes distortion of skull with growth
Can cause increased intracranial pressure and brain damage if not treated

60
Q

Apert Syndrome

characteristics

A

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
Q

Crouzon Syndrome

A
  • 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
Q

Pfeiffer Syndrome

Classic or Type 1

Types 2 and 3

A

-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
Q

Saethre-Chotzen Syndrome

A
  • Features are quite variable.

- Cleft palate and submucous cleft palate are present in only a small number of patients.

64
Q
  • Complete genetics evaluation is crucial for a correct diagnosis.
  • Collaborative team effort will provide the best outcome for the child.
A
  • Complete genetics evaluation is crucial for a correct diagnosis.
  • Collaborative team effort will provide the best outcome for the child.

Cleft Palate (8 decks)

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