Kyphoscoliotic Ehlers-Danlos syndrome (kEDS)
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A neonate with marked muscle hypotonia and severe joint hypermobility develops progressive kyphoscoliosis over the first year. Sclerae are blue, skin is hyperextensible, and there's a history of microcornea on eye exam. A vascular event (arterial rupture) in adolescence is the family's biggest worry.
AR; two molecularly distinct forms:
- kEDS-PLOD1: PLOD1 (lysyl hydroxylase 1). Most common. Urinary deoxypyridinoline / pyridinoline (LP/HP) ratio is elevated, the biochemical hallmark.
- kEDS-FKBP14: FKBP14. LP/HP ratio normal; sensorineural hearing loss and myopathic features more prominent.
- Congenital muscle hypotonia (presents at birth, distinguishes from other EDS subtypes)
- Progressive kyphoscoliosis within the first year
- Generalized joint hypermobility with recurrent dislocations
- Skin hyperextensibility, easy bruising
- Ocular fragility: blue sclerae, microcornea, risk of globe rupture
- Vascular fragility: medium-vessel arterial rupture (key cause of mortality)
- Sensorineural hearing loss (more in FKBP14)
- 2017 international classification: hypotonia + kyphoscoliosis + joint hypermobility = clinical suspicion
- Urinary LP/HP ratio for kEDS-PLOD1 (specific, fast, cheaper than sequencing)
- Confirmatory sequencing of PLOD1 and FKBP14
- Vascular EDS (vEDS / COL3A1): vessel rupture without congenital hypotonia or kyphoscoliosis
- Classic EDS: skin findings prominent, no congenital hypotonia
- Marfan syndrome: aortic root, lens dislocation, no skin hyperextensibility
- Spinal muscular atrophy: hypotonia without skin/joint findings
- Cardiovascular: baseline + serial vascular imaging (head-to-pelvis MRA every 1–2 yrs); avoid arterial puncture and contact sports
- Spine: orthopedic surveillance, bracing, surgical correction when severe
- Eye: annual exam; protect against trauma
- Audiology for kEDS-FKBP14
- Pregnancy is high-risk (uterine rupture, dissection)
"kEDS = Kyphoscoliosis from Day-1, plus Spinal hypotonia": the combo of congenital hypotonia + early progressive kyphoscoliosis distinguishes it from every other EDS subtype.