contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A

Term ID

DOID:0081321

Synonyms

• Autosomal dominant multiple pterygium syndrome

Definition

A contractures, pterygia, and spondylocarpotarsal fusion syndrome that is characterized by contractures of proximal and distal joints, pterygia involving the neck, axillae, elbows, and/or knees, as well as variable vertebral, carpal, and tarsal fusions and short stature and that has material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13. https://pubmed.ncbi.nlm.nih.gov/29805041/

References

• MIM:178110
• ORDO:65743

Ontology

Human Disease   ( DOID:0081321 )