Similar yet distinct, Marfan syndrome and hypermobile Ehlers–Danlos syndrome are united by overlapping features but differentiated by key underlying differences. This can lead people to contact our helpline thinking they may have MFS, when in fact they have the more common hEDS. Here is our handy table, putting the conditions side by side.
(The symptoms shared by the syndromes are highlighted in bold).
| MARFAN SYNDROME | HYPERMOBILE EHLERS-DANLOS SYNDROME | |
| INCIDENCE | 1 in 3,000 | 1,3125 (in reality, the prevalence is probably higher and widely underdiagnosed. Recent data suggests the diagnosed prevalence is closer to 1 in 500, with 70% of those affected being female) |
| CAUSATIVE GENES | Mutation of fibrillin-1 gene (FBN1) on chromosome 15 | Unknown |
| MODE OF INHERITANCE | Autosomal dominant | Autosomal dominant |
| CARDIOVASCULAR | Aortic Aneurysm | Some people with hEDS have mild aortic root dilation, but it typically does not progress or require treatment |
| Aortic dissection (tear) or rupture | ||
| Aortic valve leakage | ||
| Congenital heart defects | ||
| Tachycardia | ||
| Mitral Valve Prolapse | Mitral Valve Prolapse | |
| MUSCULOSKELETAL | Craniocervical instability | |
| Tall stature (increased armspan greater than height) | Tall stature (increased armspan greater than height) | |
| High-arched palate in the mouth and crowding of teeth | High-arched palate in the mouth and crowding of teeth | |
| Temporomandibular joint dysfunction | Temporomandibular joint dysfunction | |
| Long skull | Long skull | |
| Arachnodactyly (long, thin, spidery fingers); | Arachnodactyly (long, thin, spidery fingers); | |
| Scoliosis & Kyphosis | Scoliosis & Kyphosis | |
| Pectus deformity (indented or protruding chest); | Pectus deformity (indented or protruding chest); | |
| Lax ankles & flat feet | Lax ankles & flat feet | |
| Chiari 1 Malformation | Chiari 1 Malformation | |
| EYES | Lens dislocation | |
| Retinal detachment | ||
| Early onset glaucoma | ||
| Early onset cataracts | ||
| Eyelid laxity | ||
| Myopia and Astigmatism | Myopia and Astigmatism | |
| SKIN | Skin Hyperextensibility | |
| Easy bruising | ||
| Atrophic scars | ||
| Unexplained stretch marks (striae) | Unexplained stretch marks (striae) | |
| GASTROINTESTINAL | Gastroesophageal reflux disease | |
| Irritable bowel syndrome | Irritable bowel syndrome | |
| Gastroparesis (slow gastric emptying) | Gastroparesis (slow gastric emptying) | |
| Intestinal dysmotility | Intestinal dysmotility | |
| Heartburn | Heartburn | |
| Constipation | Constipation | |
| OTHER FEATURES | ||
| Pneumothorax (collapse of the lung) | ||
| Deviated nasal septum | ||
| Low-set ears | ||
| Narrow ear canals | ||
| Narrow sinuses | ||
| Attention Deficit Hyperactivity Disorder | ||
| Dysautonomia which can cause POTS (postural orthostatic taccychardia syndrome) | ||
| Autism spectrum disorder | ||
| Sleep apnoea | Sleep apnoea | |
| Chronic fatigue | Chronic fatigue | |
| Chronic pain | Chronic pain | |
| Headaches | Headaches | |
| Cerebrospinal fluid (CSF) | Cerebrospinal fluid (CSF) | |
| Dural ectasia | Dural ectasia |
