Table 1.

Respiratory manifestations based on selected EDS subtypes and HSD.

EDS Type	Genetic Mutation	Characteristics	Respiratory Presentations, Radiologic and Pathologic Findings		Prevalence
Classical EDS 7,9,10	Major: COL5A1 (Type V) collagen Rare: COL1A1 (Type I collagen)	Skin hyperextensibility Soft, doughy skin Skin fragility Atrophic scarring Joint hypermobility Easy bruising Molluscoid pseudotumors Subcutaneous spheroids Hernia	Cough Sputum Dyspnea Nocturnal cough or wheeze Asthmatic symptoms Bronchitis Increased lung volumes Impaired gas transfer	Pneumonia Sinusitis Pleurisy Hemoptysis Asthma Increased tendency to airways collapse Increased lung compliance	1/20,000
Vascular EDS (vEDS) 7,11 –13	Major: COL3A1 (Type 3 Collagen) Rare: COL1A1 (Type 1 Collagen)	Thin translucent skin Arterial/intestinal/uterine fragility or rupture Extensive bruising Facial features (thin vermilion of the lips, small earlobes, prominent eyes) Aged appearance to the extremities	Pneumothorax and hemothorax Emphysematous and bullous lung disease Hemoptysis Pulmonary hypertension Cough Chest pain	Diffuse hemorrhage Hemosiderosis Fibrosis with calcification organizing hematoma Cavities, nodules Pleurisy Pneumonia Dyspnea	Between 1/50,000 to 1/250,000
Hypermobile EDS (hEDS) 3,7,14,15	Unknown	Hyperextensible and/or smooth, velvety skin Generalized Joint Hypermobility Musculoskeletal pain Dislocations	Reduced inspiratory muscle strength Dysphonia, hoarseness, weak voice, throat pain, laryngospasm episodes, subglottic stenosis	Dyspnea Breathing difficulties Chest wall deformities Airway collapse Restrictive/obstructive patterns	Estimates between 1:5,000 and 1:20,000
Hypermobility Spectrum Disorder (HSD) 3,9,16 –18	Unknown	Dislocation/subluxations Pain same as hEDS Disrupted proprioception Degenerative joint and bone disease Muscle weakness	Cough/sputum Dyspnea Nocturnal cough or wheeze Asthmatic symptoms Bronchitis	Impaired gas transfer Increased lung compliance Increased tendency to airways collapse Increased lung volumes	Estimate: 1 in 500