Ehlers-Danlos Syndrome

Definition

• Heritable connective tissue disorders with defective collagen formation or processing

Classification

The 2017 international classification lists 13 types

Type	Features
Hypermobile	Most common, no identified gene
Classical	COL5A1 or COL5A2 mutations
Vascular	COL3A1 mutations
Kyphoscoliotic	PLOD1 or FKBP14 mutations

Original publication Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, Bloom L, Bowen JM, Brady AF, Burrows NP, Castori M, Cohen H, Colombi M, Demirdas S, De Backer J, De Paepe A, Fournel-Gigleux S, Frank M, Ghali N, Giunta C, Grahame R, Hakim A, Jeunemaitre X, Johnson D, Juul-Kristensen B, Kapferer-Seebacher I, Kazkaz H, Kosho T, Lavallee ME, Levy H, Mendoza-Londono R, Pepin M, Pope FM, Reinstein E, Robert L, Rohrbach M, Sanders L, Sobey GJ, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Wheeldon N, Zschocke J, Tinkle B. The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet. 2017;175(1):8-26.

Clinical Features

• Hyperextensible joints
• Hyperelastic, fragile skin with atrophic scars
• Easy bruising
• Soft tissue and bony fragility
• Blue sclera in some types
• Hernias
• Recurrent dislocation of shoulder, patella and other joints
• Scoliosis
• Chronic pain and fatigue in the hypermobile type
• Vascular type risks arterial, bowel and uterine rupture

Investigations

• Beighton score out of 9 for hypermobility
• Genetic testing for all types except hypermobile
• Echocardiography for aortic root dilatation

Differential Diagnosis

• Marfan syndrome
• Loeys-Dietz syndrome
• Osteogenesis imperfecta
• Benign joint hypermobility

Management

• Physiotherapy for proprioception and muscle strengthening
• Bracing and activity modification
• Stabilisation surgery has high failure and recurrence rates
• Bony procedures outperform soft tissue repairs for instability
• Meticulous wound closure with sutures left longer
• Vascular type needs careful handling of tissues and vascular surgery backup

Complications

• Wound dehiscence
• Haemorrhage
• Recurrent instability after surgery

Reviewed by Professor Phong Tran, Head of Orthopaedic Surgery, Western Health. Last updated 10 October 2026.