Spondylodysplastic EDS

Spondylodysplastic Ehlers-Danlos (spEDS) previously known as spondylocheriodysplastic type i is inherited by autosomal recessive mutations for B4GALT7, B3GALT6, and SLC39A13.

spEDS primarily impacts the skin and hands. Clinically spEDS patients may show stunted growth, protuberant eyes with a blue-ish tint to the sclera, wrinkled skin on the palms, atrophy of the muscles at the base of the thumb and tapering fingers. 

 

Minimal criteria to suggest a spEDS diagnosis are the first and second major criteria, plus characteristic radiographic abnormalities and at least three minor criteria. Molecular testing is required to confirm a diagnosis.

Major Criteria:

1. Short stature (progressive in childhood); 

2. Muscle hypotonia (ranging from severe congenital to mild later-onset); and 

3. Bowing of limbs 

Minor Criteria:

1. Skin hyperextensibility, soft, doughy skin, thin translucent skin;

2. Pes planus (flatfoot);

3. delayed motor development;

4. Osteopenia

5. Delayed cognitive development 

For more information see The Ehlers-Danlos Society

References

The 2017 International Classification of the Ehlers–Danlos Syndromes