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Medical Genetics > Craniofacial Disorders > Flashcards

Craniofacial Disorders Flashcards

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1
Q

Out of isolated cleft lip, isolated cleft palate, and cleft lip and palate, which is the most common?

A

Most to least common
both > palate alone > lip alone

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2
Q

What is a good indication to check for cleft palate?

A

bifid uvula

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3
Q

What is the incidence of isolated cleft palate?

A

incidence of isolated cleft
palate: 1/2,000 live births

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4
Q

What is the incidence of cleft lip and palate?

A

Incidence of cleft lip and
palate: 1/600-1/800 live births

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5
Q

Which clefts are more common in boys vs girls?

A

Cleft Lip/Palate more common in males
Isolated cleft palate more common in females

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6
Q

Are unilateral or bilateral clefts more common?

A

Unilateral more common than bilateral (4:1)
- 70% left sided

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7
Q

What are the recurrence risks for clefts?

A
  • Unaffected parents, one child with cleft: 2.5-
    4%
  • Parent with cleft: 3-6%
  • One parent and one child with cleft: 15-16%
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8
Q

Are clefts associated with advanced maternal or paternal age?

A

paternal

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9
Q

What are medications that can cause clefts?

A
  • Antiepileptics (valproate, carbamazepine)
  • Ondansetron (hyperemesis gravida)
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10
Q

Describe Pierre Robin sequence

A
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11
Q

What is one cause otitis media (nfection of the middle ear that causes inflammation (redness and swelling) and a build-up of fluid behind the eardrum)

A

Cleft Lip/Cleft Palate

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12
Q

What is the timeline for cleft lip repair?

A

3-6 months old

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13
Q

What is the timeline for cleft palate repair?

A

9-18 months old

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14
Q

What is Nasoalveolar Molding (NAM) Procedure?

A
  • Non-surgical intervention for first few weeks
  • Reshapes gums/lip/nostrils prior to cleft repair
  • In hopes of reducing surgeries in the future
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15
Q

What is the inheritence pattern of Stickler Syndrome?

A

AR or AD depending on COL_A Gene

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16
Q

What type of disorder is Stickler Syndrome?

A

collagen type II disorder

17
Q

What are key features of Stickler Syndrome?

A

single gene cause of clefting
Pierre Robin sequence, cleft palate, cataracts, severe myopia, arthritis, scoliosis, sensorineural hearing loss
High risk of retinal detachment

18
Q

Why is it important to identify Stickler Syndrome early?

A

High risk of retinal detachment → laser prophylactic treatment available

19
Q

Genetics & Key features of Van der Woude

A

IRF6, GRHL3
Autosomal Dominant
Cleft lip and/or palate
Lip pits

IRF6 is also for Popliteal Pterygium Syndrome (PPS)

20
Q

Genetics & Key features of Popliteal Pterygium Syndrome (PPS)

A

Autosomal dominant IRF6
Webbing of skin on the back of legs pathognomonic skin folding around nails

same gene as Van der Woude

21
Q

Smith-Lemli-Opitz (SLO) Syndrome

A

DHCR7 Autosomal recessive
Metabolic condition, 7-dehydrocholesterol reductase enzyme deficiency
Causes cholesterol deficiency
Feeding difficulties, 2,3-syndactyly on feet, microcephaly, low set ears, cleft palate
Autism and/or ID, cataracts, recurrent infections, polydactyly

22
Q

Genetics & Key features of Kabuki Syndrome

A

KMT2D - AD, KDM6A - X-linked
Infantile hypotonia, developmental delay, retained fetal fingertip pads, increased risk for infections, cleft lip/palate, high arched palate, congenital heart defects, hearing loss
Appearance: long palpebral fissures, broad arched eyebrows, prominent ears

both genes strt with K

23
Q

What are something things to look fo rto be suspicious of a clefting syndrome/ single gene cause of clefting? (We may not be looking at a multifactorial cause for cleft, and should consider a genetic cause)

A
  • More than one affected family member
  • Additional features associated with common clefting syndromes
    Lip pits (Van der Woude)
    Developmental delays
    Congenital heart defect
  • Significant family history related to common clefting syndromes
    Father with retinal detachment (Stickler Syndrome)
24
Q

Genetics & Key features of DiGeorge Syndrome

A

22q11.2 Deletion
90% de novo, common deletion is around 2.5 Mb
1:3800-1:6000 prevalence
Developmental delay, submucosal cleft palate, congenital heart defects, autism, schizophrenia possible, scoliosis, feeding difficulties, short stature and obesity
Asymmetric crying facies, prominent nasal bridge, craniosynostosis, micrognathia

Medical Genetics (11 decks)

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