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Osteoglophonic Dysplasia

Osteoglophonic Dysplasia Deep Research Notes

Manual MONDO:0008150

Osteoglophonic Dysplasia Deep Research Notes

Date: 2026-04-18 Curator: Codex manual synthesis

Scope

Disease: Osteoglophonic dysplasia

Focus for issue #1506: - phenotype section only - add clinically important manifestations backed by exact PMID text - include frequency or onset only when directly supported - remove unsupported obligate-style assertions

Core Phenotype Sources Used

  • PMID:15625620
  • Mutation-confirmed FGFR1 paper with direct abstract support for craniosynostosis, prominent supraorbital ridges, depressed nasal bridge, rhizomelic dwarfism, and nonossifying bone lesions.
  • PMID:16918680
  • Dental follow-up case with direct abstract support for multiple unerupted teeth, several impacted teeth, and lucent jaw/long-bone lesions.
  • PMID:29147600
  • Mutation-confirmed Indian case with direct abstract support for disproportionate short stature, delayed tooth eruption, hypodontia, long-bone nonossifying lesions, and hypophosphatemia.
  • PMID:35148738
  • Four-year follow-up dental case with direct abstract support for frontal bossing and anteverted nares.
  • PMID:38648328
  • 2024 GeneReviews synthesis with PMID-backed abstract text supporting multisuture craniosynostosis, multiple craniofacial features, delayed/failed tooth eruption, gingival overgrowth, osteopenia, and fracture risk.
  • PMID:8958322
  • Review/case report supporting delayed tooth eruption, rib expansion, speech/developmental issues, and rare spontaneous fractures with pseudoarthroses.
  • PMID:8995175
  • Radiology report supporting platyspondyly and epiphyseal dysplasia in addition to nonossifying fibromata.
  • PMID:40260920
  • 2025 phenotype update supporting hypophosphatemia as part of the spectrum and adding overlapping toes as a newly reported feature.

Included in YAML

Phenotypes added or materially strengthened: - multisuture craniosynostosis - disproportionate short-limb short stature - rhizomelia - nonossifying fibromas of the long bones - platyspondyly - epiphyseal dysplasia - osteopenia - pathologic fracture - frontal bossing - prominent supraorbital ridges - depressed nasal bridge - proptosis - hypertelorism - midface retrusion - short nose - anteverted nares - low-set ears - high palate - delayed eruption of teeth - impacted teeth - hypodontia - gingival overgrowth - hypophosphatemia - overlapping toe

Deliberate Omissions / Softening

  • No phenotype frequency: values were retained or added.
  • The available abstracts reliably support disease-phenotype association, but they do not provide direct quantitative frequency bands for these manifestations.
  • Bone age was not modeled.
  • PMID:29147600 reports advanced bone age, while PMID:35148738 reports delayed skeletal maturation, so the current literature is conflicting.
  • Developmental delay / speech delay were not promoted to core phenotypes.
  • PMID:8958322 describes them, but older reports such as PMID:7422392 and PMID:20339250 emphasize normal intelligence or later normal cognition, suggesting variable expression rather than a stable core manifestation.
  • Elevated frontal temperature from PMID:40260920 was not modeled.
  • It appears to be a newly reported observation in two individuals, but HPO grounding is less clear and clinical importance is currently less established than overlapping toes.
  • Short, broad hands and feet from PMID:38648328 were not separately encoded.
  • The review clearly notes distal extremity involvement, but the closest exact HPO fits were less clean than the other added manifestations, so I kept the YAML focused on stronger mappings first.