ZFIN Human Disease: Freeman-Sheldon syndrome

OBO ID: DOID:0111604

Term Name:	Freeman-Sheldon syndrome		Search Ontology:
Synonyms:	craniocarpotarsal dysplasia craniocarpotarsal dystrophy whistling face syndrome whistling face-windmill vane hand syndrome
Definition:	A distal arthrogryposis characterized by microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. (3)
References:	ICD10CM:Q87.0 MESH:C535483 NCI:C98931 OMIM:193700 ORDO:2053 SNOMEDCT_US_2021_09_01:52616002
Ontology:	Human Disease ( DOID:0111604 )

Relationships

is a type of:	distal arthrogryposis distal arthrogryposis Show first 5 Terms
has subtype:	autosomal recessive Whistling face syndrome distal arthrogryposis type 2A autosomal recessive Whistling face syndrome distal arthrogryposis type 2A Show first 5 Terms

OTHER Freeman-Sheldon syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
MYH3		Arthrogryposis, distal, type 2A (Freeman-Sheldon)

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None