distal arthrogryposis type 3

Term ID

DOID:0111607

Synonyms

• camptodactyly-cleft palate-clubfoot syndrome
• DA3
• distal arthrogryposis multiplex congenita type IIA
• Gordon syndrome

Definition

A distal arthrogryposis characterized by distal arthrogryposis with short stature and cleft palate that has_material_basis_in heterozygous mutation in the PIEZO2 gene on chromosome 18p11.22-p11.21. (2)

References

• GARD:2553
• MESH:C537288
• OMIM:114300
• ORDO:376
• SNOMEDCT_US_2021_09_01:897570002

Ontology

Human Disease   ( DOID:0111607 )