Kyphoscoliotic EDS (kEDS)

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 kEDS?

kEDS is an incredibly rare type of EDS and symptoms include muscle hypotonia, kyphoscoliosis which is congenital or early onset as well as generalised joint hypermobility.

What is the cause of kEDS?

kEDS is caused by variations in a person’s genes. kEDS is caused by variations in the PLOD1 or FKBP14 genes.

How is kEDS diagnosed?

When diagnosing kEDS 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 kEDS it is split into a set of major, minor cand gene specific criteria.

The Major criteria

1. Congenital muscle hypotonia
2. Congenital or early onset kyphoscoliosis (progressive or nonprogressive)
3. Generalised joint hypermobility with dislocations/subluxations (shoulders, hips, and knees in particular)

The Minor criteria

1. Skin hyperextensibility
2. Easy bruisable skin
3. Rupture/aneurysm of a medium sized artery
4. Osteopenia/osteoporosis
5. Blue sclerae
6. Hernia (umbilical or inguinal)
7. Pectus deformity
8. Marfanoid habitus
9. Talipes equinovarus
10. Refractive errors (myopia, hypermetropia)

Gene specific criteria

PLOD1:

1. Skin fragility (easy bruising, friable skin, poor wound healing, widened atrophic scarring)
2. Scleral and ocular fragility/rupture
3. Microcornea
4. Facial dysmorphology

FKBP14:

1. Congenital hearing impairment (sensorineural, conductive, or mixed)
2. Follicular hyperkeratosis
3. Muscle atrophy
4. Bladder diverticula

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

Major criteria 1 (Congenital muscle hypotonia) and major criterion 2 (Congenital or early onset kyphoscoliosis)

Plus

Either: major criterion 3 (Generlised joint hypermobility)
And/or: three minor criteria (either general or gene-specific criteria)

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 kEDS managed?

kEDS 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

Click here for an article on kEDS by the EDS NDS