BabelNet

bn:02801991n

Noun Concept

Categories: Hearing loss with craniofacial syndromes, Congenital disorders, Rare syndromes, Diseases named for discoverer, Syndromes with dysmelia

Pfeiffer syndrome acrocephalosyndactylia type V Acrocephalosyndactyly, type V

Pfeiffer syndrome is a rare genetic disorder, characterized by the premature fusion of certain bones of the skull, which affects the shape of the head and face. Wikipedia

Definitions

Relations

Sources

Pfeiffer syndrome is a rare genetic disorder, characterized by the premature fusion of certain bones of the skull, which affects the shape of the head and face. Wikipedia

A rare genetic disorder characterized by the premature fusion of certain bones of the skull Wikipedia Disambiguation

Acrocephalosyndactylia that has material basis in mutations in the FGFR1 and FGFR2 gene which results in premature fusion located in skull Wikidata

IS A

rare disease

genetic disease

acrocephalosyndactylia

DIFFERENT FROM

infectious mononucleosis

GENETIC ASSOCIATION

fibroblast growth factor receptor 1

fibroblast growth factor receptor 2

HEALTH SPECIALTY