Arthrochalasia EDS (aEDS)

ESTIMATED PREVALENCE: <1 in 1,000,000 [39]

INHERITANCE PATTERN: Autosomal Dominant

SYMPTOMS [40, 41]:

Arthrochalasia EDS (aEDS) is most often found at birth, as severe dislocations of the smaller and larger joints can be either visually seen or reproduced upon manipulation. Almost all patients born with aEDS have bilateral hip dislocation. Many are also born with clubfoot, flatfoot, and/or skew foot (foot shaped like a “C”). It is common for other joints to sublux or dislocate, as well. Muscle weakness, skin hyperextensibility (stretchiness), easy bruising, and atrophic (cigar-like) scarring are routine.

Some patients with aEDS may also have mild craniofacial anomalies, called “dysmorphia of the face”, such as a large fontanelle (soft spot), blue sclera (blue in the whites of eyes), an unusually prominent forehead, or facial features which are undeveloped.

DIAGNOSTIC CRITERIA [42]:

To diagnose aEDS, the following formula must be satisfied:

Major Criterion #1 + Major Criterion #3, OR Major Criterion #2 + two (2) Minor Criteria

To be diagnosed, Major Criterion #1 (congenital bilateral hip dislocation), plus Major Criterion #3 (skin hyperextensibility), or Major Criterion #2 (severe generalized joint hypermobility, with many dislocations or subluxations), plus two Minor Criteria have to be satisfied. To confirm a suspected diagnosis, molecular genetic testing must be performed.

The major and minor criteria and the genetic markers responsible for aEDS can be found in the chart below.

Major Diagnostic Criteria

• Congenital bilateral hip dislocation
• Severe GJH, with multiple dislocations/subluxations
• Skin hyperextensibility

Minor Diagnostic Criteria

• Muscle hypotonia
• Kyphoscoliosis
• Radiologically mild osteopenia
• Tissue fragility, including atrophic scars
• Easily bruised skin

Genetic Markers:

COL1A1
COL1A2