Ehlers-Danlos syndrome musculocontractural type 2

Term ID

DOID:0080737

Synonyms

Definition

An Ehlers-Danlos syndrome that is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay and that has_material_basis_in homozygous mutation in the DSE gene on chromosome 6q22. https://pubmed.ncbi.nlm.nih.gov/28306229/

References

• OMIM:615539

Ontology

Human Disease   ( DOID:0080737 )