To meet the diagnostic criteria for kEDS, a person must meet: Major criterion 1 AND major criterion 2 AND major criterion 3 OR Major criterion 1 AND major criterion 2 AND three minor criteria (general or gene-specific) Major Criteria Congenital muscle hypotonia Congenital or early onset kyphoscoliosis (progressive or non-progressive) Generalized joint hypermobility with dislocations/subluxations (shoulders, hips, and knees in particular) Minor Criteria Skin hyperextensibility Easily bruisable skin Rupture/aneurysm of a medium-sized artery Osteopenia/osteoporosis Blue sclerae Hernia (umbilical or inguinal) Pectus deformity Marfanoid habitus Talipes equinovarus Refractive errors (myopia, hypermetropia) Gene-Specific Minor Criteria PLOD1 Skin fragility (easy bruising, friable skin, poor wound healing, widened atrophic scarring) Scleral and ocular fragility/rupture Microcornea Facial dysmorphology FKBP14 Congenital hearing impairment (sensorineural, conductive, or mixed) Follicular hyperkeratosis Muscle atrophy Bladder diverticula Musculocontractural EDS (mcEDS) If a person meets the diagnostic criteria for mcEDS, genetic testing should be done to confirm the diagnosis
PubChem Reference: View compound profile on NIH PubChem Key Characteristics MOLECULAR PROFILE Formula: C 78 H 123 N 23 O 23 S 2 Weight: 1815.12 g/mol CAS: 221231-10-3 Origin: hGH 177-191 + N-terminal tyrosine Structure: Modified peptide with disulfide bridge PHYSICAL PROPERTIES Form: White to off-white lyophilized powder Solubility: Readily soluble in water Stability: Excellent with disulfide bridge Storage: Keep refrigerated 3646 F (28 C) Related products
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Author contributions Funding acquisition: DT, KH, MP
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