acrocephalosyndactyly type I/II (Apert's syndrome, Apert-Crouzon syndrome, Vogt cephalodactyly)
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Genetics
- associated with defects in FGFR2 gene
Clinical manifestations
- facio-cranio-synostosis
- bicoronal
- results in acrocephaly (brachysphenocephalic type)
- osseous & membranous syndactyly of the 4 extremities
- syndactyly of the fingers & toes may be total (mitten hands & sock feet) or partial affecting the 2nd, 3rd, & 4th digits
- midface hypoplasia
- intellectual deficit is frequent & often severe, usually associated with cerebral malformations