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Carried by: OSCAR
References:
Clinician(s): Karelle BENISTAN and Caroline MICHOT
Biologist(s): Philippe DE MAZANCOURT, Corinne METAY, Clarisse BILLON

Presentation

Hyperlaxity: excessive tissue elasticity => joint hypermobility.

Clinical assessment using validated scores (Beighton score, Bulbena score).

 

Numerous diagnostic categories:

  • Numerous syndromes with intellectual disability
  • Myopathies
  • Genetic skeletal disorders

=> High proportion of syndromes with hypermobility

 

The subpopulation targeted by the pre-indication corresponds to patients with MAJOR hypermobility who do not fall within the above categories.

=> Patients with primary connective tissue involvement:

  • Skeletal marfanoid syndromes (normal heart and eyes)
  • Cutis laxa syndromes
  • Ehlers-Danlos syndromes (non vascular EDS) EXCLUDING Hypermobile EDS
  • Undetermined nosological entities with MAJOR hypermobility

Criteria before considering a discussion in MDM-FMG

Patients with major hypermobility (without intellectual disability), without myopathy and without radiological bone abnormalities falling within one of the following subpopulations:

  • non vascular EDS patients with negative targeted NGS panel, EXCEPT FOR HYPERMOBILE EDS.
  • Hypermobile patients with marfanoid morphology (high Ghent systemic score), without vascular or ophthalmological involvement, with negative targeted NGS panel.
  • Patients with major joint hypermobility as a key symptom + primary involvement of at least one other system, with a negative targeted NGS panel for the involved system .

 

Definition of hyperlaxity considered as MAJOR:

Paediatric cases: Beighton score ≥ 7/9 and Bulbena score ≥ 7/10, with significantly increased range of motion in all joints:  fifth finger (hyperextension ≥120°), elbows (recurvatum ≥ 30°) and knees (recurvatum ≥ 30°).

Adult cases: Beighton score ≥ 6/9 and Bulbena score ≥ 5/10, with significantly increased range of motion in the joints of the 5th finger (hyperextension ≥120°), elbows (recurvatum ≥ 30°) and knees (recurvatum ≥ 30°).

Genome Sequencing in diagnostic strategy

MDM cartography

MDM
Type of the MDM
City of the coordinator
Name, first name, and email of the contact

MDM-FMG nv-EDS

National
Paris

Karelle BENISTAN

karelle.benistan@aphp.fr

Caroline MICHOT

caroline.michot@aphp.fr

Baptiste VIERNE
Project Officer at the Reference Centre for Non-Vascular Ehlers-Danlos Syndromes
baptiste.vierne@aphp.fr