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Hypochondrogenesis phenotype curation notes

Date: 2026-04-19 Target file: kb/disorders/Hypochondrogenesis.yaml Issue: #1501

Phenotypes retained or strengthened

  • Micromelia:
  • PMID:11730591: "Clinical and radiological findings showed platyspondylic dwarfism with short extremities, narrow thorax and hydropic appearance."
  • PMID:11956729: "Fetal MR findings were ... broad, short long bones."
  • Platyspondyly:
  • PMID:11730591: "Clinical and radiological findings showed platyspondylic dwarfism..."
  • Short ribs:
  • PMID:3057886: "radiographs revealed short ribs..."
  • Narrow chest:
  • PMID:11730591: "... narrow thorax ..."
  • PMID:11956729: "... hypoplastic thorax ..."
  • Hypoplastic ilia:
  • PMID:3057886: "... hypoplastic ilia ..."
  • Delayed pubic bone ossification:
  • PMID:11956729: "... retarded ossification of the pubic bones ..."
  • Delayed epiphyseal ossification:
  • PMID:6641761: "... absence of all the epiphyseal nuclei and of the tarsal bones ..."
  • Metaphyseal widening:
  • PMID:3057886: "... mild metaphyseal flaring."
  • Respiratory distress:
  • PMID:11730591: "The infant died on the third day of life from progressive respiratory distress."
  • Hydrops fetalis:
  • PMID:11730591: "... hydropic appearance."
  • PMID:25823796: "... generalized hydrops fetalis ..."
  • Micrognathia:
  • PMID:12099566: "Examples of micrognathia include ... hypochondrogenesis."
  • Polyhydramnios:
  • PMID:11730591: "... revealed shortening of the extremities, voluminous cranium and polyhydramnios."

Claims removed or softened

  • Removed Flat face and Depressed nasal bridge from the phenotype section because no direct PMID-backed abstract support was confirmed for hypochondrogenesis.
  • Removed Cleft palate because no direct PMID-backed abstract support was confirmed for hypochondrogenesis itself.
  • Removed Short neck because the prior support was inferential rather than directly stated.
  • Replaced Pulmonary hypoplasia with directly evidenced Respiratory distress; thoracic hypoplasia remains represented by Narrow chest.

Notes

  • Frequency fields were omitted because the reviewed abstracts did not directly support frequency bands.
  • Pelvic and metaphyseal findings were added because they were directly stated in primary radiographic abstracts and were missing from the phenotype section.