Craniofacial Syndromes exam review
questions and answers
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 Pfeiffer Syndrome - Craniosynostosis, broad thumb & toes, normal or near
normal intelligence (classic form)
Type 2 Pfeiffer Syndrome - Cloverleaf skull, severe CNS involvement, elbow
synostosis, early death
Type 3 Pfeiffer Syndrome - Like type 2 without cloverleaf skull; poor prognosis
What mutations are associated with Pfeiffer syndrome? - FGFR 1 (8p11.22-p12)
and FGFR 2 (10q25-q26)
FGFR 1 mutations associated with less severe extremity involvement
What mutation is associated with Apert syndrome? - FGFR 2
, Craniofacial Syndromes exam review
questions and answers
What mutation is associated with Crouzon syndrome? - FGFR 2
What is the mutation associated with the variant of Crouzon syndrome that
includes acanthosis nigricans [A skin condition characterized by dark, velvety
patches in body folds and creases]? - Ala391Glu substitution of the FGFR 3 (4p)
gene
What is the mutation associated with Muenke syndrome? - Point mutation of
FGFR 3 (4p) gene
What of the craniosynostosis syndromes follows an autosomal recessive pattern
of inheritance? - Carpenter syndrome
What is Carpenter Syndrome? - Craniofacial syndrome characterized by:
craniosynostosis, polysyndactyly of the hands and feet, and brachydactyly of the
fingers, clinodactyly, and occasional partial soft tissue syndactyly. Patients often
display short stature and obesity. Intelligence is variable but mental retardation
may occur.
questions and answers
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 Pfeiffer Syndrome - Craniosynostosis, broad thumb & toes, normal or near
normal intelligence (classic form)
Type 2 Pfeiffer Syndrome - Cloverleaf skull, severe CNS involvement, elbow
synostosis, early death
Type 3 Pfeiffer Syndrome - Like type 2 without cloverleaf skull; poor prognosis
What mutations are associated with Pfeiffer syndrome? - FGFR 1 (8p11.22-p12)
and FGFR 2 (10q25-q26)
FGFR 1 mutations associated with less severe extremity involvement
What mutation is associated with Apert syndrome? - FGFR 2
, Craniofacial Syndromes exam review
questions and answers
What mutation is associated with Crouzon syndrome? - FGFR 2
What is the mutation associated with the variant of Crouzon syndrome that
includes acanthosis nigricans [A skin condition characterized by dark, velvety
patches in body folds and creases]? - Ala391Glu substitution of the FGFR 3 (4p)
gene
What is the mutation associated with Muenke syndrome? - Point mutation of
FGFR 3 (4p) gene
What of the craniosynostosis syndromes follows an autosomal recessive pattern
of inheritance? - Carpenter syndrome
What is Carpenter Syndrome? - Craniofacial syndrome characterized by:
craniosynostosis, polysyndactyly of the hands and feet, and brachydactyly of the
fingers, clinodactyly, and occasional partial soft tissue syndactyly. Patients often
display short stature and obesity. Intelligence is variable but mental retardation
may occur.
