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.
1. Short stature (progressive in childhood);
2. Muscle hypotonia (ranging from severe congenital to mild later-onset); and
3. Bowing of limbs
1. Skin hyperextensibility, soft, doughy skin, thin translucent skin;
2. Pes planus (flatfoot);
3. delayed motor development;
5. Delayed cognitive development
For more information see The Ehlers-Danlos Society