Send us a Message

Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Ontology Browser

Preaxial Polydactyly IV (DOID:9008310)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2)
Parent Terms Term With Siblings Child Terms
Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet 
Ectodermal Dysplasia, Alopecia, Preaxial Polydactyly 
Guttmacher syndrome  
Preaxial Hallucal Polydactyly 
Preaxial Polydactyly I  
Preaxial Polydactyly II +   
Preaxial Polydactyly III 
Preaxial Polydactyly IV  
Although both preaxial polydactyly and syndactyly are cardinal features of this malformation, it is classified as a form of polydactyly because syndactyly does not occur in the absence of polydactyly, the opposite not being true. On the other hand, polysyndactyly is here classified as a type of syndactyly because polydactyly (of the third or fourth fingers and fifth toes) does not occur in the absence of syndactyly. The thumb shows only the mildest degree of duplication, and syndactyly of various degrees affects fingers 3 and 4. The foot malformation is more constant and consists of duplication of part or all of the first or second toes and syndactyly affects all of the toes, especially the second and third. Some cases of preaxial polydactyly type IV are caused by heterozygous mutation in the GLI3 gene on chromosome 7p14. (OMIM)

Exact Synonyms: PPD4 ;   preaxial polydactyly 4 ;   uncomplicated polysyndactyly
Primary IDs: MESH:C536333
Alternate IDs: OMIM:174700

paths to the root