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ENApert Syndrome (APRS)
Alias:
Acrocephalosyndactyly Type I
Acs1
Acrocephalosyndactyly Type 1
Acrocephalosyndactylia
Acrocephalosyndactyly
Acs I
Acrocephalosyndactyly, Type I
Type I Acrocephalosyndactyly
Apert-Crouzon Disease
Apert's Syndrome
Aprs
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Apert Syndrome, also known as acrocephalosyndactyly type i, is related to hypertelorism and plagiocephaly. An important gene associated with Apert Syndrome is FGFR2 (Fibroblast Growth Factor Receptor 2), and among its related pathways/superpathways are Infectious disease and ERK Signaling. Affiliated tissues include bone and eye, and related phenotypes are frontal bossing and depressed nasal bridge
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Basic Information
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MALACARDS
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