What is Spondylodysplastic Ehlers-Danlos (spEDS)?

Spondylodysplastic Ehlers-Danlos syndromspe (spEDS) 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).

Source: [1 Spondylodysplastic Ehlers-Danlos syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program (nih.gov)]

Signs & Symptoms of Spondylodysplastic EDS

Individuals with Spondylodysplastic EDS may have the following features:

  • Aortic valve stenosis
  • Arachnodactyly
  • Skin laxity
  • Prominent eye folds
  • Joint contractures
  • Red and swollen gums
  • Global developmental delay
  • Growth delay
  • Hyperextensible skin
  • Hypotonia
  • Inability to make and keep healthy fat tissue
  • Flat foot
  • A degree of wrinkling of the facial skin that is more than expected for the age of the individual, leading to a prematurely aged appearance.
  • Short stature
  • Thin skin

Occasionally there may be other features present including:

  • Abnormal facial shape
  • Abnormality of skin pigmentation
  • Atrophic scars
  • Atypical scarring of skin
  • Narrow mouth
  • Osteopenia
  • Skeletal dysplasia
  • Skeletal muscle atrophy
  • Sparse and thin eyebrow
  • Sparse scalp hair
  • Joint hyperflexibility
  • Kyphoscoliosis

Source: [1 Spondylodysplastic Ehlers-Danlos syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program (nih.gov)]

Diagnosis of Spondylodysplastic Ehlers-Danlos Syndrome

There are five general minor criteria, plus gene-specific criteria for B4GALT7, B3GALT6, and SLC39A13.

Minimal criteria required to suggest a diagnosis for spEDS are the first and second major criteria, plus characteristic radiographic abnormalities and at least three minor criteria (either general or gene-specific)

Major Criteria

  1. Short stature (progressive in childhood)
  2. Muscle hypotonia (ranging from severe congenital, to mild later-onset)
  3. Bowing of limbs

Minor Criteria

  1. Skin hyperextensibility, soft, doughy skin, thin translucent skin
  2. Pes planus (flat feet)
  3. Delayed motor development
  4. Osteopenia
  5. Delayed cognitive development

Gene-specific minor criteria

  1. B4GALT7
  2. B3GALT6
  3. SLC39A13

A final diagnosis requires confirmation by molecular testing.

Sources: [1 2017 International Classification of the Ehlers-Danlos Syndromes] [2 Ehlers Danlos Society]

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: