encyclopedia of medical concepts
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Acrocephalosyndactylia
More information
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Definition
: Congenital craniostenosis with syndactyly.
See Also
Receptor, Fibroblast Growth Factor, Type 2
;
Twist Transcription Factor
Other names
Saethre-
Chotzen Syndrome; Pfeiffer Syndrome; Apert Syndrome; Syndrome, Saethre-
Chotzen; Syndrome, Pfeiffer; Syndrome, Kurczynski Casperson; Syndrome, Chotzen; Syndrome, Apert; Syndactylic Oxycephalies; Saethre Chotzen Syndrome; Disease, Apert-
Crouzon; Apert Crouzon Disease; Acrocephalosyndactylies, Type 3; Acrocephalosyndactylies, Type 1; Acrocephalosyndactylias; Syndactylic Oxycephaly; Kurczynski Casperson Syndrome; Chotzen Syndrome; Apert-
Crouzon Disease; Acrocephaly, Skull Asymmetry, and Mild Syndactyly
Substance
CAS Registry & name
Categories
Source
Pfeiffer type acrocephalosyndactyly
0
*Acrocephalosyndactylia.
Summitt syndrome
0
*Acrocephalosyndactylia.
Greig cephalopolysyndactyly syndrome
0
*Acrocephalosyndactylia.
Goodman camptodactyly
0
*Acrocephalosyndactylia
*Hand Deformities, Congenital.
Sakati syndrome
0
*Acrocephalosyndactylia.
Robinow Sorauf syndrome
0
*Acrocephalosyndactylia.
Maroteaux Fonfria syndrome
0
*Acrocephalosyndactylia
*Polydactyly.
Cardiocranial syndrome
0
*Acrocephalosyndactylia
*Heart Defects, Congenital.
TWIST1 protein, human
0
*Nuclear Proteins
*Twist Transcription Factor
Acrocephalosyndactylia.
Nat Genet 1997 Jan;15(1):36-41