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ECU Craniofacial Anomalies + Laryngeal Rehab > 1.4 - Syndromes Associated with Cleft > Flashcards

1.4 - Syndromes Associated with Cleft Flashcards

1
Q

How many syndromes are associated with Cleft Palate?

A

350

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2
Q

Name 7 Syndromes associated with Cleft Palate?

A

Trisomy 13

Wolf-Hirschhorn Syndrome

Van der Woude Syndrome

Fetal Alcohol Syndrome

Stickler Syndrome

Velocardiofacial Syndrome (deletion 22q11.2)

Pierre Robin Sequence

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3
Q

What is Trisomy 13?

A

Genetic disorder in which a person has 3 copies of genetic material from chromosome 13, instead of the usual 2 copies

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4
Q

What percentage of children with Trisomy 13 will have Cleft Lip +/- Palate?

A

60-80%

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5
Q

What symptoms are seen in Trisomy 13?

12

A

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

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6
Q

What is Holoprosencephaly?

What does this cause?

A

Failure of brain to divide

Causes midline cleft

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7
Q

What percentage of infants born with Trisomy 13 live past their first year?

A

10%

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8
Q

What is Wolf-Hirschhorn Syndrome?

2

A

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

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9
Q

What are the symptoms of Wolf-Hirschhorn Syndrome?

7

A

Hypertelorism (extremely wide-set eyes)

Strabismus

Broad or beaked nose

Microcephaly

Low-set, malformed ears

Mental + growth deficiency

Heart (cardiac) defects, and seizures

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10
Q

What is the most common syndromic cause of Cleft Lip +/- Palate?

A

Van der Woude Syndrome

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11
Q

What is Van der Woude Syndrome?

A

Autosomal dominant disorder (meaning it can be passed on to offspring)

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12
Q

What is the defining feature of Van der Woude Syndrome?

In what percentage of cases are these seen?

A

Lip pits

80%

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13
Q

What are the symptoms of Van der Woude Syndrome?

4

A

Paramedian lip pits or conical elevations (may be unilateral)

Can have clefts of lip +/- palate

Hypodontia

Abnormalities of the nipples

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14
Q

What is Fetal Alcohol Syndrome?

Is Cleft always seen in FAS?

A

Affect of maternal alcohol syndrome

No

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15
Q

What are the symptoms of Fetal Alcohol Syndrome?

10

A

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

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16
Q

What is Pierre Robin Sequence?

2

A

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

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17
Q

What are the Symptoms of Pierre Robin Sequence?

4

A

Cleft Palate

Glossoptosis

Micrognathia/Retrognathia

Respiratory + Feeding problems

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18
Q

How are clefts unique in Pierre Robin Sequence?

2

A

Horseshoe shaped cleft palate only

High vault

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19
Q

What treatments are often required for Pierre Robin Sequence and when?

(3)

A

Nasopharyngeal airway (tube 3-4mo)

Tracheostomy (up to 14 mo)

Mandibular osteogenic distraction (to widen jaw)

20
Q

What is he most common cause of Cleft Palate?

A

Stickler Syndrome

21
Q

What is Stickler Syndrome?

A

Genetic condition causing cleft

22
Q

What are the symptoms of Stickler Syndrome?

10

A

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)

23
Q

What percentage of those with Velocardiofacial Syndrome (deletion 22q11.2) have Velopharyngeal Incompetence?

A

20%

24
Q

What is Hemifacial Microsomia?

A

A heterogeneous spectrum of disorders with many causes

25
Q

What are the symptoms of Hemifacial Microsomia?

7

A

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

26
Q

What are the symptoms of Nager Syndrome?

5

A

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)

27
Q

What are the symptoms of Ectodermal Dysplasia-Cleft Syndrome?

(7)

A

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

28
Q

What is Apert Syndrome?

A

An autosomal disorder affecting the skull, face, maxilla, mandible, hands, feet, and joints

29
Q

What are the symptoms of Apert Syndrome?

12

A

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)

30
Q

What are they symptoms of Crouzon Syndrome?

9

A

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

31
Q

What are the symptoms of Pfeiffer Syndrome?

12

A

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

32
Q

How can limb abnormalities be used to differentiate between Crouzon, Apert, + Pfeiffer Syndromes?

(3)

A

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

33
Q

What are the symptoms of Saethre-Chotzen Syndrome?

A

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

34
Q

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
A

Trisomy 13

35
Q

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
A

Wolf-Hirschhorn Syndrome

36
Q

What disorder has the following symptoms?

  • Paramedian lip pits or conical elevations (may be unilateral)
  • Clefts of lip +/- palate
  • Hypodontia
  • Abnormalities of the nipples
A

Van der Woude Syndrome

37
Q

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
A

Fetal Alcohol Syndrome

38
Q

What disorder has the following symptoms?

  • Cleft Palate
  • Glossoptosis
  • Micrognathia/Retrognathia
  • Respiratory + Feeding problems
A

Pierre Robin Sequence

39
Q

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)
A

Stickler Syndrome

40
Q

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
A

Hemifacial Microsomia

41
Q

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
A

Nager Syndrome

42
Q

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
A

Ectodermal Dysplasia-Cleft Syndrome

43
Q

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)
A

Apert Syndrome

44
Q

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
A

Crouzon Syndrome

45
Q

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
A

Pfeiffer Syndrome

46
Q

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
A

Saethre-Chotzen Syndrome

ECU Craniofacial Anomalies + Laryngeal Rehab (35 decks)

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