Chapter Three Flashcards by Becky Chesney

The Genetics Evaluation and Common Craniofacial Syndromes

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Craniofacial Syndromes

_____are associated with clefting.

Children with clefts often have other _______due to a syndrome (especially with CPO or VPI).

They often involve _________structures and ear.

Many involve malformation of _______.

_____of patients with craniofacial syndromes have DD, LD, neurologic or cognitive disorders.

Hundreds

malformations

oral, pharyngeal, laryngeal

cranium/brain

Half

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Craniofacial Anomalies

Effect on communication:

Articulation:

Language:

Resonance:

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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Genetics Evaluation

Prenatal history

Medical history

Developmental history

Feeding history

Family history

Physical examination

Laboratory and imaging studies

Genetic counseling

Psychosocial counseling

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Syndrome Identification

Importance for patient care:
1.
2.
3.
4.

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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Prenatal History
Prenatal history is important to know.

Exposure to _____can increase risk for craniofacial anomalies.

teratogens

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Medical History

Complications _________ must be noted.

Medical history is important for _______and for providing proper ______for older children.

before, during, and after birth

diagnosing a syndrome

treatment

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Developmental History

Note __________ in school.

milestones, therapies, and progression

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Feeding History

Problems are common in _____who have a cleft palate

Feeding history is important for management of feeding in ______.

infants

older children

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Family History

Pedigree—

Create a pedigree of family out to ____generations.

a pictorial representation of family members and their line of descent

four

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Physical Examination

Check for _______

Include a ______examination (nonhereditary features).

Examine early and present _____ of the client and family members for similarities.

microcephaly

dysmorphology

photographs

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Laboratory studies:
Help make a _____.
Confirm a ______.

Imaging studies:
Identify __________ and _______

diagnosis
clinical suspicion

bone maturation and structural anomalies.

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Genetics Scheduling

Educate the family about _____and ______.

Provide ____________, if necessary.

Discuss _____risks.

hereditary factors and development

referrals to school and community services

recurrence

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Psychosocial Effects

Patients with craniofacial syndromes often have three fundamental problems:
1.
2.
3.

They look abnormal.
They sound abnormal.
They often have learning problems.

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Effects on the Child

Poor self-esteem

Anxiety

Behavioral problems

Social introversion

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Effect on Family Members

Strain emotionally and financially

Often causes problems for siblings and marital problems

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Dysmorphology

Malformation:

Deformation:

due to a genetic etiology (cleft palate)

Deformation—due to abnormal mechanical forces on an otherwise normal structure (burned in a fire)

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Dysmorphology

Amnion:

Amniotic bands:

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

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Syndrome—

Association—

Sequence—

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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Pierre Robin Sequence

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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Pierre Robin Sequence
Triad of characteristics:
1.
2.
3.

Secondary _________ at birth

Micrognathia—small mandible

Glossoptosis—base of tongue retruded in pharynx

Wide bell-shaped cleft palate

airway obstruction

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Pierre Robin Sequence

Micrognathia
Can be genetic as part of a syndrome (malformation)

Stickler’s syndrome, velocardiofacial syndrome, etc.

Can be due to __________in utero (deformation)
Multiple babies
Polyhydramnious

external mechanical interference

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Pierre Robin Sequence

Early Problems—______

Tongue is _______

Inspiration causes _______

Negative pressure can cause pharyngeal collapse during sleep, resulting in _______

Airway

in the pharyngeal space.

negative pressure.

sleep apnea

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Pierre Robin Sequence***

Treatment—Airway

Laying child in prone position

Glossopexy—suturing tongue to bottom lip

Tracheostomy

Distraction osteogenesis: fracture the skull and pull the mandible forward

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Pierre Robin Sequence | Additional Problems***

Feeding Hearing Loss Risk for speech problems

Genetics of Nonsyndromic Cleft Lip w/wo Cleft Palate Recurrence risk for parents and child is ______ Racial differences (highest to lowest): ______ cleft lip is more common than _____

3% to 5%. Indigenous American Indians Asians Caucasians African descent Left- sided; right sided

Genetics of Syndromic Cleft Lip w/wo Cleft Palate Over ____ syndromes are associated with facial clefts. Cleft palate (without cleft lip) is much more likely to be associated with _________

400 a syndrome or other congenital anomalies.

Genetics of Cleft Palate Only About ____of children with cleft palate only have a syndrome or other associated anomalies.

half

Beckwith-Wiedemann Syndrome

Hypertrophic (large) features Macroglossia—large tongue Treatment with a partial glossectomy IMAGE

Beckwith-Wiedemann Syndrome Organ______ At risk for ______

macromegaly Wilms tumors (kidney cancer)

CHARGE Syndrome****

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

Fetal Alcohol Syndrome Common cause of... Distinct...

Pierre Robin Sequence and cleft palate facial features and other birth defects

Hemifacial Microsomia Also called:

Facioauriculovertebral (FAV) syndrome Goldenhar syndrome Oculoauriculovertebral Dysplasia

Hemifacial Microsomia

Unilateral lack of development (hypoplasia) malar, maxillary, mandibular processes Cleft-like extension of corner of mouth May have unilateral velar paresis or paralysis

Hemifacial Microsomia Microtia/anotia:

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

Kabuki

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

Neurofibromatosis I (NF1)

Café au lait macules—pigmented spots Neurofibromas Velopharyngeal dysfunction

Opitz Syndrome

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

Orofacial Digital (OFD) Syndrome

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

Orofacial Digital (OFD) Syndrome

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

Stickler Syndrome | Pierre Robin Sequence plus:

Skeletal abnormalities Juvenile arthritis and joint disorders Myopia and eye abnormalities Sensorineural hearing loss Wide, flat face Autosomal dominant condition

Treacher Collins Syndrome***

Downward slant of eyes Hypoplastic malar and zygomatic bones Coloboma of lower eye lids Microtia or small ears

Treacher Collins Syndrome***

Macrostomia or microstomia (mouth) Middle ear anomalies, conductive hearing loss Micrognathia May have Pierre Robin Sequence

Trisomy 13 Results in... Many have...

severe birth defects affecting the brain and heart clefts in the midline of the lip and face

Van der Woude Syndrome***

Cleft lip/palate with bilateral lip pits on lower lip Autosomal dominant—50% risk of recurrence

``` Velocardiofacial Syndrome (VCFS) One of the most common conditions assoc with cleft palate ``` Also known as:

Shprintzen syndrome DiGeorge syndrome 22q11.2 syndrome

``` Velocardiofacial Syndrome (VCFS) Basic Phenotypic Features ``` Velo: Cardio: Facial: Other:

Velo: velopharyngeal dysfunction Cardio: minor cardiac, vascular anomalies Facial: dysmorphic facial features Other: learning disabilities, oral motor dysfunction, psychological concerns, other medical problems

``` Velocardiofacial Syndrome (VCFS) Variable Expressivity ``` Can exhibit many of the typical characteristics or only a few Most commonly characterized by ______

abnormal speech

Velocardiofacial Syndrome (VCFS) Velopharyngeal Dysfunction

Cleft of the soft palate Submucous cleft Occult submucous cleft Pharyngeal hypotonia

Velocardiofacial Syndrome (VCFS) Cardiac Anomalies:

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

``` Velocardiofacial Syndrome (VCFS) Vascular Anomalies ```

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

``` Velocardiofacial Syndrome (VCFS) 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

``` Velocardiofacial Syndrome (VCFS) Facial Features: ```

Thin upper lip Micrognathia or retruded mandible, often with Class II malocclusion Minor auricular anomalies Abundant scalp hair Microcephaly

``` Velocardiofacial Syndrome (VCFS) Common Physical Findings: ```

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

``` Velocardiofacial Syndrome (VCFS) Common Medical Problems: ```

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

Velocardiofacial Syndrome (VCFS) 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

``` Velocardiofacial Syndrome (VCFS) Learning and Cognitive Findings: ```

Learning disabilities Concrete thinking Mild to moderate mental disability

Velocardiofacial Syndrome (VCFS) Communication Problems:

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

Velocardiofacial Syndrome (VCFS) Etiology

Autosomal dominant Deletion on chromosome 22q11.2

Velocardiofacial Syndrome (VCFS) Diagnosis

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

Wolf-Hirschhorn Syndrome Distinct facial features include:

Hypertelorism: wide-spaced eyes Prominent nasal bridge Cleft lip and/or palate