GenTIGSA Gene Database on Rare Genetic Disorders
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Pfeiffer Syndrome  
Disease Aliases (60)

Acrocephalosyndactyly, type i

Acrocephalosyndactyly, type ii

Acs

Acs 1

Acs 2

Acs i

Acs ii

Acs1

Apert-crouzon disease

Acrocephalo-syndactyly type 1

Acrocephalosyndactylia

Acrocephalosyndactylias

Acrocephalosyndactylies, type 1

Acrocephalosyndactylies, type 3

Acrocephalosyndactylies, type i

Acrocephalosyndactylies, type ii

Acrocephalosyndactylies, type iii

Acrocephalosyndactylies, type v

Acrocephalosyndactyly (apert)

Acrocephalosyndactyly iii

Acrocephalosyndactyly iiis

Acrocephalosyndactyly type 1

Acrocephalosyndactyly, type 1

Acrocephalosyndactyly, type 3

Acrocephalosyndactyly, type iii

Acrocephalosyndactyly, type v

Acrocephaly, skull asymmetry, and mild syndactyly

Apert crouzon disease

Apert syndrome

Chotzen syndrome

Craniofacial-skeletal-dermatologic dysplasia

Disease, apert-crouzon

Dysostosis craniofacialis with hypertelorism

Fgfr2-related craniosynostosis

Kurczynski casperson syndrome

Noack syndrome

Noack syndromes

Pfeiffer syndrome

Saethre chotzen syndrome

Saethre-chotzen syndrome

Syndactylic oxycephalies

Syndactylic oxycephaly

Syndrome, apert

Syndrome, chotzen

Syndrome, kurczynski casperson

Syndrome, noack

Syndrome, pfeiffer

Syndrome, saethre-chotzen

Syndromes, noack

Type i acrocephalosyndactylies

Type i acrocephalosyndactyly

Type ii acrocephalosyndactylies

Type ii acrocephalosyndactyly

Type iii acrocephalosyndactyly

Type v acrocephalosyndactylies

Type v acrocephalosyndactyly

Vogt cephalodactyly

Acrocephalosyndactyly

Acrocephalosyndactyly type i

Acrocephalosyndactyly, type 2

Associated Genes (1)
 

NCBI-RefSeq:  FGFR2   (Fibroblast growth factor receptor 2)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Pfeiffer syndrome OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations