Ehlers-Danlos syndrome musculocontractural type 2

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; cardia

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.

Signs and symptoms

• Poor wound healing
• Inguinal hernia
• Atrophic scars
• Dental crowding
• High palate
• Protruding ear
• Arachnodactyly
• Generalized muscle weakness
• Downslanted palpebral fissures
• Joint hypermobility