The Spectrum of Hypermobility
Hypermobility is excess (hyper) movement (mobility) present in the joints of the human body. This is the opposite of hypomobility, the decrease of movement in the joint. Many disorders and diseases diagnosed and managed by Rheumatologists involve hypomobility – the most common being Arthritis. However, thankfully for us, some Rheumatologists are also skilled at managing hypermobility conditions.
Few people know that hypermobility, or this extra movement at the joints, can cause widespread problems for the individual who has inherited this condition. The hypermobile nature of joints can be caused by a range of factors, including the shape of bones and bony articulations, or a training effect. However, it is important to realise that many people with hypermobility actually have problems due to the makeup of the collagen in their bodies.
Collagen is “an insoluble fibrous protein of vertebrates that is the chief constituent of the fibrils of connective tissue (as in skin and tendons)”. The fact that collagen is what makes up connective tissues is how and why we often call hypermobility a ‘connective tissue dysplasia.’ The term ‘connective tissue dysplasia’ (CTD) is used as an inclusive term for over 600 disorders involving problematic connective tissue, including: The Ehlers-Danlos Syndromes, Marfan Syndrome, Loeys-Dietz Syndrome, Osteogenesis Imperfecta (OI), Arthrogryposis, and skeletal bone dysplasias.


The Hypermobility Spectrum Disorders
From March 2017, we are working with the new classification system decided upon by the International Consortium on the Ehlers-Danlos Syndromes.
That new classification brings with it a review of the hypermobility disorders, with hypermobility syndrome now renamed, and falling under the umbrella of Hypermobility Spectrum Disorders. This spectrum of joint hypermobility now includes:
Asymptomatic Generalised Joint Hypermobility
Asymptomatic Peripheral Joint Hypermobility
Asymptomatic Localized Joint Hypermobility
Generalised Hypermobility Spectrum Disorder
Peripheral Hypermobility Spectrum Disorder
Localized Hypermobility Spectrum Disorder
Historical Hypermobility Spectrum Disorder
Taken from: A framework for the classification of joint hypermobility and related conditions (Castori et al, 2017)
Generalized (joint) HSD (G-HSD): GJH objectively assessed (e.g., by the Beighton score) plus one or more secondary musculoskeletal manifestations as previously identified. In these patients, the pattern and severity of the involvement of the musculoskeletal system should be carefully assessed in order to explore the possibility of a full-blown hEDS. In this category usually fall most patients with GJH and additional musculoskeletal manifestations but do not meet the full diagnostic criteria for hEDS.
Peripheral (joint) HSD (P-HSD): JH limited to hands and feet plus one or more secondary musculoskeletal manifestations as previously identified.
Localized (joint) HSD (L-HSD): JH at single joints or group of joints plus one or more secondary musculoskeletal manifestations regionally related to the hypermobile joint(s).
Historical (joint) HSD (H-HSD): self-reported (historical) GJH (e.g., by the five-point questionnaire) with negative Beighton score plus one or more secondary musculoskeletal manifestations as previously identified; in these cases, physical examination aimed at excluding the alternative diagnoses of G-HSD, P-HSD, and L-HSD as well as other rheumatologic conditions is mandatory.
The secondary musculoskeletal manifestations that can occur in HSDs include:
- joint trauma (e.g. micro & macro trauma from subluxations, dislocations, sprains etc.)
- pain
- degenerative joint and bone disease
- neurodevelopmental differences (e.g. disturbed proprioception, muscle weakness); and
- orthopaedic traits
SUMMARY:
Joint Hypermobility (JH) is characterised by an excessive range of movement at a joint in the body.
You can have asymptomatic joint hypermobility, that is, hypermobility in the joints which do not cause any musculoskeletal complaints.
Hypermobility Spectrum Disorders is the term that encompasses Generalised, Peripheral, Localised and Historical Hypermobility Spectrum Disorders.
The Beighton Scale is used to determine the level of generalised hypermobility. Otherwise, in individuals whose ability to perform the Beighton Scale, the Five-Point Questionnaire is used.
There is a range of different conditions which can cause hypermobility of the joints, of which Hypermobility Spectrum Disorders and Hypermobile EDS are just two.

Classical EDS (cEDS)
Genetic Basis: Major: COL5A1, COL5A1; Rare: COL1A1 Protein: Type V Collagen, Type I Collagen *major for hypermobilityClassic-like EDS (clEDS)
Genetic Basis: TNXB Protein: Tenascin XB *major for hypermobilityCardiac-valvular (cvEDS)
Genetic Basis: COL1A2 (biallelic mutations that lead to COL1A2 NMD and absence of pro α2(I) collagen chains) Protein: Type I Collagen *major for hypermobilityVascular EDS (vEDS)
Genetic Basis: Major: COL3A1; Rare: COL1A1 Protein: (major) Type III Collagen; (rare) Type I Collagen *minor for hypermobilityHypermobile EDS (hEDS)
Genetic Basis: Unknown Protein: Unknown *major for hypermobilityArthrochalasia EDS (aEDS)
Genetic Basis: COL1A1, COL1A2 Protein: Type I Collagen *major for hypermobilityDermatosparaxis EDS (dEDS)
Genetic Basis: ADAMTS2 Protein: ADAMTS2 *minor for hypermobilityKyphoscoliotic EDS (kEDS)
Genetic Basis: PLOD1 ; FKBP14 Protein: LH1 ; FKBP22 *major for hypermobilityBrittle Cornea syndrome (BCS)
Genetic Basis: ZNF469 Protein: ZNF469 *minor for hypermobilitySpondylodysplastic EDS (spEDS)
Genetic Basis: B4GALT7 ; B3GALT6 ; SLC39A13 Protein: β4GalT7 ; β3GalT6 ; ZIP13 *minor for hypermobilityMusculocontractural EDS (mcEDS)
Genetic Basis: CHST14 ; DSE Protein: D4ST1 ; DSEMyopathic EDS (mEDS)
Genetic Basis: COL12A1 Protein: Type XII Collagen *major for hypermobilityPeriodontal EDS (pEDS)
Genetic Basis: C1R ; C1S Protein: C1r; C1s *minor for hypermobilityMarfan Syndrome
This information was taken directly from The Marfan Foundation
People are born with Marfan syndrome and related disorders, but they may not notice any features until later in life. However, features of Marfan syndrome and related disorders can appear at any age. Some people have many features at birth or as young children. Other people develop features, including aortic enlargement, as teens or even as adults. Some features are progressive, meaning they can get worse as people age.
All of this makes it very important for people with Marfan syndrome and related disorders to have ongoing monitoring, especially for life-threatening aspects of the condition like aortic enlargement. An accurate and early diagnosis helps to ensure proper treatment. Some treatments can prevent symptoms from getting worse and ultimately save lives.
Some signs are easy to see
Every person’s experience with Marfan syndrome is slightly different. No one has every feature and people have different combinations of features. Some features of Marfan syndrome are easier to see than others. These include:
- Long arms, legs, and fingers
- Tall and thin body type
- Curved spine
- Chest sinks in or sticks out
- Flexible joints
- Flat feet
- Crowded teeth
- Stretch marks on the skin that are not related to weight gain or loss
Other signs are harder to detect
Harder-to-detect signs of Marfan syndrome include heart problems, especially those related to the aorta, the large blood vessel that carries blood away from the heart to the rest of the body. Other signs can include sudden lung collapse and eye problems, including severe nearsightedness, dislocated lens, detached retina, early glaucoma, and early cataracts. Special tests are often needed to detect these features.
What does Marfan Syndrome look like?
Marfan syndrome can affect many parts of the body, and each person is affected differently. This is called variable expression. Features can even vary among people in the same family who have the condition. Visit our photo gallery to see the many faces and body types of Marfan syndrome. (The Marfan Foundation)