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Spondyloepimetaphyseal Dysplasia Strudwick Type phenotype curation note

Issue: #1508 Date: 2026-04-18

Phenotype papers used

  • PMID:7550321 established the core Strudwick phenotype from the original COL2A1 paper: disproportionate short stature, pectus carinatum, scoliosis, and dappled metaphyses.
  • PMID:12925722 provided direct Strudwick family evidence for chest deformity, limb shortening, myopia, and early-onset degenerative osteoarthrosis.
  • PMID:16280719 provided the strongest abstract-level Strudwick evidence for the orthopedic complications: hypoplastic odontoid peg, atlantoaxial instability, kyphosis/lordosis, hip subluxation, coxa vara, genu valgum, club foot, and early severe hip osteoarthritis.
  • PMID:1870932 was the key source for onset-supported radiographic phenotypes: delayed ossification of proximal femoral epiphyses, coxa vara, odontoid hypoplasia, lumbar lordosis, and metaphyseal irregularity developing during infancy.
  • PMID:8723096 added longitudinal radiographic detail from Gly154Arg SEMD cases later cited as Strudwick-consistent in PMID:12925722: short tubular bones, delayed epiphyseal development, and severe metaphyseal dysplasia with dappling irregularities.
  • PMID:25383842 provided direct Strudwick evidence for high myopia and bilateral rhegmatogenous retinal detachment in adolescence.

Claims intentionally removed or downgraded

  • Cleft palate was removed from the phenotype section because I did not find an abstract-level Strudwick-specific PMID supporting it.
  • Sensorineural hearing impairment was removed because the existing support came from a mixed COL2A1 cohort rather than Strudwick-specific cases.
  • Restrictive ventilatory defect was removed because I did not identify direct phenotype evidence in a Strudwick abstract.
  • Platyspondyly was removed because the existing evidence supported only broad SEMD vertebral involvement, not a clearly Strudwick-specific abstract-level platyspondyly claim.

Curation approach

  • Preferred Strudwick-specific case reports or families over mixed COL2A1 cohorts.
  • Added onset only where the abstract explicitly supported congenital or infantile timing.
  • Replaced broader phenotype wording with more specific terms when the abstract directly supported the narrower claim, for example Delayed epiphyseal ossification.