What is Arthrochalasia Ehlers-Danlos (aEDS)?

Arthrochalasia Ehlers-Danlos syndrome (aEDS) is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include severe joint hypermobility; congenital hip dislocation; fragile, hyperextensible skin; hypotonia; and kyphoscoliosis (kyphosis and scoliosis). EDS, arthrochalasia type is caused by changes in the COL1A1 gene or the COL1A2 gene and is inherited in an autosomal dominant manner (Autosomal Dominant – a child of one parent with EDS has a 50% chance of inheriting).

Signs & Symptoms of Arthrochalasia EDS

Individuals with Arthrochalasia EDS may have the following features:

  • Aphasia
  • Deformations in neck and hip joints
  • Echolalia – The tendency to repeat vocalizations made by another person
  • Hip Displasia and dislocations
  • Hyperextensible skin
  • Hypotonia – low muscle tone
  • Joint dislocations, stiffness and hyperflexibility
  • Mutism
  • Scarring
  • Severe short stature
  • Thin skin

Occasionally there may be other features present including:

  • Depressed nasal bridge
  • Prominent eye folds
  • Widened interpupillary distance
  • Scoliosis

Diagnosis of Arthrochalasia Ehlers-Danlos Syndrome

Minimal criteria for aEDS are congenital bilateral hip dislocation (major criterion 1) plus either: skin hyperextensibility (major criterion 3); or severe GJH (major criterion 2) with at least two minor criteria.

Major Criteria

  1. Congenital bilateral hip dislocation
  2. Severe General Joint Hypermobility, with multiple dislocations/subluxations
  3. Skin hyperextensibility

Minor Criteria

  1. Muscle hypotonia
  2. Kyphoscoliosis
  3. Radiologically mild osteopenia
  4. Tissue fragility, including atrophic scars
  5. Easy bruisable skin

A final diagnosis requires confirmation by molecular testing.

Sources:  [1 Arthrochalasia Ehlers-Danlos syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program (nih.gov)]
[2 Ehlers-Danlos Society] [3 2017 International Classification of the Ehlers-Danlos Syndromes]

Support for Arthrochalasia Ehlers-Danlos Syndrome

Please feel free to join our Nationwide Support Group “Loosely Speaking” on Facebook, or check out our more localised support groups to see if there is one within your area.

EDSNZ are working at compiling a list of resources of services and support you may be interested in. Among these are: