contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B

Term ID

DOID:0081322

Synonyms

• Autosomal recessive 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, elbows, fingers, and/or knees, and variable vertebral, carpal, and tarsal fusions and that has_material_basis_in compound heterozygous mutation in the MYH3 gene on chromosome 17p13. https://pubmed.ncbi.nlm.nih.gov/29805041/

References

• GARD:7111
• MIM:618469
• ORDO:2990

Ontology

Human Disease   ( DOID:0081322 )