Spondylodysplastic EDS (spEDS)

Please note: The following text cannot and should not replace advice from the patient's healthcare professional(s). Any person who experiences symptoms or feels that something may be wrong should seek individual, professional help for evaluation and/or treatment. This information is for guidance only and is not intended to provide individual medical advice.

What is spEDS?

spEDS is an incredibly rare type of EDS which causes muscle hyponia, short stature and limbs which are bowed.

What is the cause of spEDS?

spEDS is caused by variations in a person’s genes. spEDS is caused by variations in the B4GALT7, B3GALT6 and SLC39A13 genes.

How is spEDS diagnosed?

When diagnosing spEDS a list of common and relevant signs and symptoms of the condition are used. This is referred to as diagnostic criteria and in the case of spEDS it is split into a set of major minor and gene specific criteria.

The Major criteria

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

The Minor criteria

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

Gene specific criteria

B4GALT7L:

1. Radioulnar synostosis
2. Bilateral elbow contractures or limited elbow movement
3. Generalised joint hypermobility
4. Single transverse palmar crease
5. Characteristic craniofacial features
6. Characteristic radiographic findings
7. Severe hypermetropia
8. Clouded cornea

B3GALT6:

1. Kyphoscoliosis (congenital or early onset, progressive)
2. Joint hypermobility, generalised or restricted to distal joints, with joint dislocations
3. Joint contractures (congenital or progressive) (especially hands)
4. Peculiar fingers (slender, tapered, arachnodactyly, spatulate, with broad distal phalanges)
5. Talipes equinovarus
6. Characteristic craniofacial features
7. Tooth discoloration, dysplastic Teeth
8. Characteristic radiographic findings
9. Osteoporosis with multiple spontaneous fractures
10. Ascending aortic aneurysm
11. Lung hypoplasia, restrictive lung disease

SLC39A13:

1. Protuberant eyes with bluish sclerae
2. Hands with finely wrinkled palms
3. Atrophy of the thenar muscles, and tapering fingers
4. Hypermobility of distal joints
5. Characteristic radiologic findings

To meet the diagnostic criteria for spEDS a person must have:

Major criterion 1 (short stature) and major criterion 2 (muscle hypotonia)

Plus

Characteristic radiographic abnormalities and at least three other minor criteria (general or type-specific)

If a person meets the criteria a genetic test is done to confirm the diagnosis. You can read more about genetic testing for the rare types of EDS here.

How is spEDS managed?

spEDS is managed through addressing the symptoms a person is experiencing. This is best done through being in the care of the NHS National EDS service; a specialised service for adults and children who have or are suspected to have a rare type of EDS.

For information about the service and for referral eligibility please click on the following links:

EDS National Diagnostic Service (based in London) covering the South of England

EDS National Diagnostic Service (based in Sheffield) covering the North of England