1.4 - Syndromes Associated with Cleft Flashcards
How many syndromes are associated with Cleft Palate?
350
Name 7 Syndromes associated with Cleft Palate?
Trisomy 13
Wolf-Hirschhorn Syndrome
Van der Woude Syndrome
Fetal Alcohol Syndrome
Stickler Syndrome
Velocardiofacial Syndrome (deletion 22q11.2)
Pierre Robin Sequence
What is Trisomy 13?
Genetic disorder in which a person has 3 copies of genetic material from chromosome 13, instead of the usual 2 copies
What percentage of children with Trisomy 13 will have Cleft Lip +/- Palate?
60-80%
What symptoms are seen in Trisomy 13?
12
Microcephaly
Cleft Lip +/- Palate
Micrognathia
Close-set eyes
Small eyes
Coloboma
Low-set ears
Decreased muscle tone
Polydactyly
Skeletal limb abnormalities
Intellectual disability
Congential Heart Disease
What is Holoprosencephaly?
What does this cause?
Failure of brain to divide
Causes midline cleft
What percentage of infants born with Trisomy 13 live past their first year?
10%
What is Wolf-Hirschhorn Syndrome?
2
Extremely rare chromosomal disorder
Recognizable by an unusual bump on the forehead above the nose (prominent glabella) and a beaked nose, giving the appearance of a Greek helmet
What are the symptoms of Wolf-Hirschhorn Syndrome?
7
Hypertelorism (extremely wide-set eyes)
Strabismus
Broad or beaked nose
Microcephaly
Low-set, malformed ears
Mental + growth deficiency
Heart (cardiac) defects, and seizures
What is the most common syndromic cause of Cleft Lip +/- Palate?
Van der Woude Syndrome
What is Van der Woude Syndrome?
Autosomal dominant disorder (meaning it can be passed on to offspring)
What is the defining feature of Van der Woude Syndrome?
In what percentage of cases are these seen?
Lip pits
80%
What are the symptoms of Van der Woude Syndrome?
4
Paramedian lip pits or conical elevations (may be unilateral)
Can have clefts of lip +/- palate
Hypodontia
Abnormalities of the nipples
What is Fetal Alcohol Syndrome?
Is Cleft always seen in FAS?
Affect of maternal alcohol syndrome
No
What are the symptoms of Fetal Alcohol Syndrome?
10
Pre- and Post-natal growth deficiency
Microcephaly
Short palpebral fissures
Epicanthal folds
Thin upper lip with a smooth philtrum
Flat, broad nasal bridge
Small nose
Flat mid face
Abnormally formed ears with flattened rims (helical) and prominent antihelical ridges
Underdeveloped lower jaw
What is Pierre Robin Sequence?
2
Suspected to be a genetic disorder
Can occur in isolation of as part of Stickler Syndrome, Mandibulofacial Dysotosis, Nager Syndrome, Van der Woude Syndrome, or Velocardiofacial Syndrome
What are the Symptoms of Pierre Robin Sequence?
4
Cleft Palate
Glossoptosis
Micrognathia/Retrognathia
Respiratory + Feeding problems
How are clefts unique in Pierre Robin Sequence?
2
Horseshoe shaped cleft palate only
High vault
What treatments are often required for Pierre Robin Sequence and when?
(3)
Nasopharyngeal airway (tube 3-4mo)
Tracheostomy (up to 14 mo)
Mandibular osteogenic distraction (to widen jaw)
What is he most common cause of Cleft Palate?
Stickler Syndrome
What is Stickler Syndrome?
Genetic condition causing cleft
What are the symptoms of Stickler Syndrome?
10
Cleft Palate (not always)
Glossoptosis
Myopia
Epicanthial folds
Micrognathia/Retrognathia
Flat facial profile
Midface hypoplasia
Progressive Sensorineural Hearing Loss
Long-bone problems (arthoopthalmophathy)
Respiratory + feeding problems (not always)
What percentage of those with Velocardiofacial Syndrome (deletion 22q11.2) have Velopharyngeal Incompetence?
20%
What is Hemifacial Microsomia?
A heterogeneous spectrum of disorders with many causes
What are the symptoms of Hemifacial Microsomia?
7
Small, deformed mandible
Mandibular difficulties increase over time leading to a severe open bite
Small maxilla
Malar hypoplasia
Variable difficulties of velopharyngeal system
Bilateral malformations of auricles and middle ear
Bilateral hearing loss
What are the symptoms of Nager Syndrome?
5
Bilateral malformations of pinnae, external auditory meatus, and middle ears
Maxillary + mandibular malformations causing difficulties opening jaw
Agenesis of soft palate (failure to develop)
Bilateral deformities of hands and feet with genesis of some digits
Bilateral deformities of radial and/or ulnar bones
(Variable incidence of deformities)
What are the symptoms of Ectodermal Dysplasia-Cleft Syndrome?
(7)
Poor tissues quality of skin, mucosa, and teeth
Deficiency of sweat glands
Hypodentia
Dry, reddened, flaky skin
Bilateral cleft lip and palate
Ectrodactyly of hands and feet
Breathy voice quality secondary to poor lubrication of VFs
What is Apert Syndrome?
An autosomal disorder affecting the skull, face, maxilla, mandible, hands, feet, and joints
What are the symptoms of Apert Syndrome?
12
Abnormally tall and foreshortened skull shape due to stenostosis
Severe deficiency in growth of mid face
Beak-shaped nose with depressed nasal bridge
Class III malocclusion of teeth
Ectopic eruption of teeth
Bony orbits are flat plates, not cup-shaped
Small V-shaped maxilla creating pseudo-cleft
Long, thick soft palate
Acne along surface of upper arms
Syndactyly of hands + feet
Variable malformations of Central Nervous System
Variable developmental delay (but some pt. have normal IQ)
What are they symptoms of Crouzon Syndrome?
9
Malformations of skull + face due to craniostenostosis
Ocular proptosis (protruding eyes)
Maxillary hypoplasia
Class III malocclusion
Nasopharyngeal overcrowding
Chronic respiratory + otologic problems
Sometimes abnormalities of trachea
Cervical spine abnormalities
IQ usually in normal range
What are the symptoms of Pfeiffer Syndrome?
12
Malformations of skull + face due to craniostenostosis
Broad thumbs and great toes
Syndactyly of other digits
Nasopharyngeal overcrowding
Chronic respiratory problems
Stenosis of external auditory meatus
Middle ear hypoplasia
Ossicular hypoplasia
Abnormalities of trachea
Vertebral abnormalities
CNS malformations
Variable intellectual function
How can limb abnormalities be used to differentiate between Crouzon, Apert, + Pfeiffer Syndromes?
(3)
Crouzon Syndrome = Not associated with syndactly or limb anomalies
Apert Syndrome = Syndactaly of all four fingers
Pfeiffer Syndrome = Large thumb and big toe + only PARTIAL syndactyly of other digits
What are the symptoms of Saethre-Chotzen Syndrome?
Progressive synopsis of coronal suture
Low frontal hairline
High, sloping or protuberant forehead
Hypertelorism (wide-set eyes)
Maxillary hypoplasia
Dental defects
Variable CNS difficulties
Cervical spine fusion in 50% of cases
Variable minor abnormalities of ears
Conductive hearing loss is common
Intellectual development usually normal
What disorder has the following symptoms?
- Microcephaly
- Cleft Lip +/- Palate
- Micrognathia
- Close-set eyes
- Small eyes
- Coloboma
- Low-set ears
- Decreased muscle tone
- Polydactyly
- Skeletal limb abnormalities
- Intellectual disability
- Congential Heart Disease
Trisomy 13
What disorder has the following symptoms?
- Hypertelorism (extremely wide-set eyes)
- Strabismus
- Broad or beaked nose
- Microcephaly
- Low-set, malformed ears
- Mental + growth deficiency
- Heart (cardiac) defects, and seizures
Wolf-Hirschhorn Syndrome
What disorder has the following symptoms?
- Paramedian lip pits or conical elevations (may be unilateral)
- Clefts of lip +/- palate
- Hypodontia
- Abnormalities of the nipples
Van der Woude Syndrome
What disorder has the following symptoms?
- Pre- and Post-natal growth deficiency
- Microcephaly
- Short palpebral fissures
- Epicanthal folds
- Thin upper lip with a smooth philtrum
- Flat, broad nasal bridge
- Small nose
- Flat mid face
- Abnormally formed ears with flattened rims (helical) and prominent antihelical ridges
- Underdeveloped lower jaw
Fetal Alcohol Syndrome
What disorder has the following symptoms?
- Cleft Palate
- Glossoptosis
- Micrognathia/Retrognathia
- Respiratory + Feeding problems
Pierre Robin Sequence
What disorder has the following symptoms?
- Cleft Palate (not always)
- Glossoptosis
- Myopia
- Epicanthial folds
- Micrognathia/Retrognathia
- Flat facial profile
- Midface hypoplasia
- Progressive Sensorineural Hearing Loss
- Long-bone problems (arthoopthalmophathy)
- Respiratory + feeding problems (not always)
Stickler Syndrome
What disorder has the following symptoms?
- Small, deformed mandible
- Mandibular difficulties increase over time leading to a severe open bite
- Small maxilla
- Malar hypoplasia
- Variable difficulties of velopharyngeal system
- Bilateral malformations of auricles and middle ear
- Bilateral hearing loss
Hemifacial Microsomia
What disorder has the following symptoms?
- Bilateral malformations of pinnae, external auditory meatus, and middle ears
- Maxillary + mandibular malformations causing difficulties opening jaw
- Agenesis of soft palate (failure to develop)
- Bilateral deformities of hands and feet with genesis of some digits
- Bilateral deformities of radial and/or ulnar bones
Nager Syndrome
What disorder has the following symptoms?
- Poor tissues quality of skin, mucosa, and teeth
- Deficiency of sweat glands
- Hypodentia
- Dry, reddened, flaky skin
- Bilateral cleft lip and palate
- Ectrodactyly of hands and feet
- Breathy voice quality secondary to poor lubrication of VFs
Ectodermal Dysplasia-Cleft Syndrome
What disorder has the following symptoms?
- Abnormally tall and foreshortened skull shape due to stenostosis
- Severe deficiency in growth of mid face
- Beak-shaped nose with depressed nasal bridge
- Class III malocclusion of teeth
- Ectopic eruption of teeth
- Bony orbits are flat plates, not cup-shaped
- Small V-shaped maxilla creating pseudo-cleft
- Long, thick soft palate
- Acne along surface of upper arms
- Syndactyly of hands + feet
- Variable malformations of Central Nervous System
- Variable developmental delay (but some pt. have normal IQ)
Apert Syndrome
What disorder has the following symptoms?
- Malformations of skull + face due to craniostenostosis
- Ocular proptosis (protruding eyes)
- Maxillary hypoplasia
- Class III malocclusion
- Nasopharyngeal overcrowding
- Chronic respiratory + otologic problems
- Sometimes abnormalities of trachea
- Cervical spine abnormalities
- IQ usually in normal range
Crouzon Syndrome
What disorder has the following symptoms?
- Malformations of skull + face due to craniostenostosis
- Broad thumbs and great toes
- Syndactyly of other digits
- Nasopharyngeal overcrowding
- Chronic respiratory problems
- Stenosis of external auditory meatus
- Middle ear hypoplasia
- Ossicular hypoplasia
- Abnormalities of trachea
- Vertebral abnormalities
- CNS malformations
- Variable intellectual function
Pfeiffer Syndrome
What disorder has the following symptoms?
- Progressive synopsis of coronal suture
- Low frontal hairline
- High, sloping or protuberant forehead
- Hypertelorism (wide-set eyes)
- Maxillary hypoplasia
- Dental defects
- Variable CNS difficulties
- Cervical spine fusion in 50% of cases
- Variable minor abnormalities of ears
- Conductive hearing loss is common
- Intellectual development usually normal
Saethre-Chotzen Syndrome
