Syndromes Flashcards
1
Q
Trisomy 31
A
Features holoprosencephaly (failure of the brain to divide)
60-80% will have CLP
2
Q
Wolf-Hirschhorn Syndrom
A
Features hypertelorism (wide-set eyes) and microcephaly
3
Q
Van der Woude Syndrome
A
Most common syndromic cause of CL/P
Lip pits visible in 80% of cases.
4
Q
Stickler Syndrome
A
Most common cause of cleft palate only
5
Q
Velocardiofacial syndrome (22-q deletion)
A
Features heart defects, specific facial features, etc.
May feature cleft palate and/or VPI (20% have VPI)
6
Q
Pierre Robin Sequence
A
Features micrognathia and high, narrow palate
7
Q
Glossoptosis
A
Downward displacement/retraction of the tongue–associated with Pierre Robin Sequence
8
Q
Hypertelorism
A
Wide-set eyes
