distal arthrogryposis type 7

Term ID

DOID:0111603

Synonyms

• DA7
• Dutch-Kentucky syndrome
• Hecht syndrome
• Hecht-Beals syndrome
• mouth, inability to completely open, and short finger-flexor tendons
• trismus-pseudocamptodactyly syndrome

Definition

A distal arthrogryposis characterized by inability to open the mouth fully and pseudocamptodactyly that has_material_basis_in heterozygous mutation in the MYH8 gene on chromosome 17p13.1. https://www.ncbi.nlm.nih.gov/pubmed/15282353

References

• GARD:2621
• MESH:C535857
• MIM:121070
• MIM:158300
• ORDO:3377

Ontology

Human Disease   ( DOID:0111603 )