In which gene is the mutation responsible for Saethre–Chotzen syndrome?
TWIST (p21–p22).
How many subtypes of Pfeiffer syndrome are documented?
Three:
Type 1—craniosynostosis, broad thumb/toes, normal or near-normal intelligence (classic form)
Type 2—cloverleaf skull, severe CNS involvement, elbow synostosis, early death
Type 3—like type 2 without cloverleaf skull; poor prognosis
What mutations are associated with Pfeiffer syndrome?
FGFR1 (8p11.22–p12) and FGFR2 (10q25–q26); FGFR1 mutations associated with less severe extremity involvement.
What mutation is associated with Apert syndrome?
FGFR2 (10q25–q26).
What mutation is associated with Crouzon syndrome?
FGFR2 (10q25–q26).
What is the mutation associated with the variant of Crouzon syndrome that includes acanthosis nigricans?
Ala391Glu substitution of the FGFR3 (4p) gene.
What is the mutation associated with Muenke syndrome?
Point mutation of FGFR3 (4p) gene.
Which of the craniosynostosis syndromes follows an autosomal recessive pattern of inheritance?
Carpenter syndrome.
Which of the craniosynostosis syndromes follows an X-linked pattern of inheritance?
Craniofrontonasal dysplasia.
What is the purported mechanism of FGF receptor mutations in craniosynostosis syndromes?
Gain of function.
What is Kleeblattschädel?
Cloverleaf skull, or pancraniosynostosis (except squamosal).
Which of the craniosynostosis syndromes is unique in that almost all mutations are one of the two specific substitution mutations on FGFR2?
Apert syndrome.
What is the Pierre Robin sequence?
Retrognathia, glossoptosis, airway obstruction.
What is the classic cleft morphology characteristic of the Robin sequence?
Wide, U-shaped cleft.
What are the most commonly associated anomalies in clefting syndromes?
Clubfoot, cardiac anomalies.
Which cleft-associated syndrome has as its hallmark feature lip pits?
Van der Woude syndrome; hypodontia also a feature.
What is the pattern of inheritance for van der Woude syndrome?
Autosomal dominant but with variable penetrance.
Which gene contains the mutation for van der Woude syndrome?
Interferon regulatory factor 6 (IRF6) on chromosome 1.
Which cleft-associated syndrome is associated with progressive blindness?
Stickler syndrome.
How many syndromes have been described to include cleft lip and/or palate?
More than 300.
What syndrome has malar hypoplasia and variable thumb and upper extremity hypoplasia?
Nager syndrome.
What is the inheritance pattern of Treacher–Collins syndrome?
Autosomal dominant.
What is the genetic mutation in Treacher–Collins syndrome?
TCOF1 (5q31.3–32).
Which nerves are involved in Moebius sequence?
CN VI and VII.
How is the genetic defect common to Velocardiofacial, DiGeorge, and Conotruncal Anomaly Face syndromes identified?
FISH (fluorescent in situ hybridization) detection of the 22q11 deletion.
What are the clinical findings associated with 22q11.2 deletion?
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