You are using an outdated browser. Please upgrade your browser to improve your experience.

Pfeiffer syndrome

Disease Summary
Associated Targets (3)
Tclin

2

Tbio

1


GARD Rare
Mondo Description Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations.
Uniprot Description A syndrome characterized by the association of craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly of the fingers and toes. Three subtypes are known: mild autosomal dominant form (type 1); cloverleaf skull, elbow ankylosis, early death, sporadic (type 2); craniosynostosis, early demise, sporadic (type 3).
Disease Ontology Description An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull.
Mondo Term and Equivalent IDs
MONDO:0007043:  Pfeiffer syndrome
GARD:0007380: 
NCIT:C99100: 
Orphanet:710: 
SCTID:70410008: 
UMLS:C0220658: