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Leri Weill Dyschondrosteosis phenotype curation codex 2026 04 24

Leri-Weill Dyschondrosteosis phenotype curation notes

Date: 2026-04-18 Issue: #1483 Scope: phenotype section only for kb/disorders/Leri-Weill_Dyschondrosteosis.yaml

Primary phenotype papers used

PMID Cohort / source Phenotype signals used in curation
11739418 21 LWD families / 43 affected individuals with confirmed SHOX abnormalities Madelung deformity present in 74% of children and adults; female predominance; high-arched palate and scoliosis reported in the LWD cohort.
10599728 14 Japanese patients with SHOX-region haploinsufficiency Mesomelia/LWD phenotype in 10/14; short 4th metacarpals and/or cubitus valgus; skeletal lesions worse with age and in females.
17182655 Multinational cohort of 1608 short children screened for SHOX defects Short forearm/lower leg, cubitus valgus, Madelung deformity, high-arched palate, and muscular hypertrophy discriminate SHOX-deficient children from non-SHOX short stature controls.
14557470 School-age SHOX-haploinsufficient children with auxology/radiography Lower extremity-trunk ratio; characteristic LWD wrist radiographic signs including triangularization of the distal radial epiphysis, pyramidalization of the distal carpal row, and lucency of the distal ulnar border of the radius.
20301394 GeneReviews Core LWD triad; mesomelia may be evident in school age; Madelung deformity usually appears in mid-to-late childhood and is more severe in females.
25110390 Review anchored in SHOX-deficiency skeletal pathology Characteristic auxological disproportion in LWD; impaired growth of radius/ulna/tibia/fibula; wrist pain and limited motion as symptomatic consequences of Madelung deformity.
32295321 15 Turkish patients with SHOX variants/deletions (4 LMD, remainder LWD-compatible) Short forearm, cubitus valgus, and muscular hypertrophy listed among the most common phenotypes.
33143726 296 children with growth impairment or skeletal disproportion screened for SHOX deficiency Increased sitting height/height ratio and decreased arm span/height ratio as the strongest auxological indicators; useful to support disproportionate growth pattern.

Curation decisions

  • Kept an explicit frequency: only for Madelung deformity because PMID:11739418 directly reports 74%, which maps to FREQUENT.
  • Removed unsupported frequency bands from mesomelia, short forearm, short tibia, wrist limitation, cubitus valgus, high palate, short 4th metacarpal, and scoliosis.
  • Replaced generic Short stature with Disproportionate short stature to better reflect the evidence-backed auxological pattern in LWD.
  • Added Wrist pain because PMID:25110390 explicitly describes it as a clinical manifestation of Madelung deformity.
  • Added Muscle hypertrophy because it is repeatedly reported as a recurrent SHOX-deficiency/LWD-compatible feature in PMIDs 17182655 and 32295321.
  • Tightened Bowing of the forearm bones to Radial bowing for a more specific ontology mapping.
  • Did not add separate radiographic phenotypes such as triangularization of the distal radial epiphysis or pyramidalization of the carpal row in the YAML because the ontology mapping was not obviously clean enough for a specific, validator-safe phenotype term in this pass.

Validation expectations

  • New phenotype PMIDs requiring cache refresh: 14557470, 32295321, 33143726.
  • All snippets selected for YAML are abstract-safe except PMID:25110390, which already has a cached full-text-derived reference in this repo and was reused only with exact text already present in the cache.