Genetic & Common Craniofacial Syndromes Flashcards

0
Q

Which ethnicity do clefts occur more commonly in?

A

Asians, followed by American Indians

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1
Q

What is the prevalence of clefts in the U.S. each year

A

1:700 live births

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2
Q

What ethnicity do clefts occur less frequently in?

A

African Americans

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3
Q

T/F: cleft lip alone is more common

A

True

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4
Q

T/F: cleft lip and cleft palate are more common together in girls

A

FALSE: More common in boys

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5
Q

Cleft palate may result from a combination of what 2 things?

A

Genetic and environmental factors

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6
Q

How does cleft occur due to genes?

A

It is not just a single gene. When a gene circuit is broken, cleft was found in mice

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7
Q

Does cleft occur due to family patterns?

A

Yes, familial patterns and gene mapping are involved in oral facial clefts

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8
Q

What are Gene ID’s shown to contribute to?

A

Syndromic and non Syndromic cleft palate/lip

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9
Q

If the first born child is born with a cleft, does that mean the 2nd born child has a high chance of being born with a cleft also?

A

No. Only 3-5% Chance for the 2nd child. HOWEVER, if parents have more than 1 child with cleft lip/palate, chances are increased for other children.

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10
Q

If neither parent has a cleft, but baby is born with a cleft, what might the reason be?

A

Multifactoral which is a combo of genes and environment , or recessive which is usually not distinguishable

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11
Q

What are 2 multifactorial hereditary risks?

A

Recessive inheritance

Autosomal dominance

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12
Q

If it can be established that there are no other affected relatives, what is the risk to siblings?

A

2.2%, which is lower than the overall 4% risk.

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13
Q

What is recurrence in children influenced by?

A

How severe the cleft is

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14
Q

What is the recurrence rate for bilateral cp/l?

A

5.6%

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15
Q

What is the recurrence rate for unilateral cp/l?

A

4.1%

16
Q

What is the recurrence rate for CL without CP?

A

2.6%

17
Q

Are syndromes more common in CPalate alone or Cleft lip with or without cleft palate?

A

More common in Cleft palate alone, but syndromes can occur in any cleft type.