Spondylodysplastic EDS
Spondylodysplastic Ehlers-Danlos (spEDS) previously known as spondylocheriodysplastic type i is inherited by autosomal recessive mutations for B4GALT7, B3GALT6, and SLC39A13.
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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.
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Major Criteria:
1. Short stature (progressive in childhood);
2. Muscle hypotonia (ranging from severe congenital to mild later-onset); and
3. Bowing of limbs
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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
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For more information see The Ehlers-Danlos Society
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References
The 2017 International Classification of the Ehlers–Danlos Syndromes