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Spondylometaphyseal Dysplasia Kozlowski Type phenotype curation notes

Date: 2026-04-18 Curator: Codex Target file: kb/disorders/Spondylometaphyseal_Dysplasia_Kozlowski_Type.yaml

Scope

Focused only on the phenotype section. Goal was to keep clinically important manifestations that could be supported with exact PMID-backed abstract snippets, add missing phenotype findings that were directly supported, and remove or soften unsupported claims.

Phenotypes retained or strengthened

  • Disproportionate short-trunk short stature
  • PMID:39825918 supports progression from age 5.
  • PMID:8233993 supports the classic adult height range and that children may not be recognized at birth.
  • Platyspondyly
  • PMID:41225599 and PMID:39825918 support platyspondyly, with persistent severe platyspondyly into later childhood/adulthood.
  • Metaphyseal irregularity
  • PMID:19232556 supports mild pelvic metaphyseal abnormalities.
  • PMID:39825918 supports proximal femoral irregularity with later femoral head destruction.
  • Scoliosis
  • PMID:19232556 and PMID:41225599 support scoliosis as a defining feature.
  • Kyphosis
  • PMID:39825918 supports increasing kyphosis with age.
  • Brachydactyly
  • PMID:24830047 supports brachydactyly across TRPV4 skeletal dysplasias.
  • PMID:38721578 confirms brachydactyly in an SMDK case.
  • Bone pain
  • PMID:39825918 supports onset around age 5 and age-related worsening.

Phenotypes added

  • Pectus carinatum
  • PMID:8233993
  • Genu varum
  • PMID:8233993 describes mild bowleg deformity.
  • Limitation of joint mobility
  • PMID:8233993 describes limited elbow and hip movement.
  • PMID:38721578 describes knee and elbow contractures in a complicated case.
  • Atlantoaxial instability
  • PMID:38721578
  • Myelopathy
  • PMID:38721578

Phenotypes removed or softened

  • Removed unsupported frequency qualifiers throughout the phenotype section.
  • Removed unsupported Barrel-Shaped Chest.
  • Removed unsupported Waddling Gait.
  • Removed unsupported Short Neck.
  • Removed unsupported Delayed Ossification of Carpal Bones.
  • Replaced Hypoplasia of the Odontoid Process with the directly supported complication Atlantoaxial Instability.

Notes

  • OMIM/Orphanet comparison suggested additional findings such as carpal ossification abnormalities and pelvic/hip features, but these were only kept when an exact abstract-backed PMID could support the claim in the disorder YAML.
  • Frequency and onset were only retained in narrative form when directly supported by an abstract snippet.