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Cleidocranial Dysplasia phenotype curation notes for issue #1499

Date: 2026-04-19

Scope: phenotype-only enrichment for kb/disorders/Cleidocranial_Dysplasia.yaml

Papers used

  • PMID:35638029
  • 72-case South America systematic review.
  • Used for frequency-backed support of clavicular dysplasia, open fontanels or cranial sutures, and supernumerary teeth.
  • Used as association support for scoliosis.

  • Used to document that short stature frequency varies across cohorts.

  • PMID:28027977

  • 15-patient cohort with endocrinologic/bone density data.
  • Used for osteoporosis frequency support.

  • Used as a counterpoint showing lower short-stature prevalence than the systematic review, so no short-stature frequency was asserted.

  • PMID:23633875

  • Human case report abstract with compact craniofacial/oral summary.

  • Used for brachycephaly, frontal bossing, wormian bones, maxillary hypoplasia, and high palate.

  • PMID:25206109

  • Existing cached CCD family report.

  • Used for persistence of primary teeth and delayed eruption of permanent teeth.

  • PMID:32894534

  • CCD audiology cohort.

  • Used for conductive hearing loss association only; no disease-wide frequency assigned because the study was a small selected cohort.

  • PMID:38534443

  • 2024 CCD clinical/genetic report.
  • Used for short middle phalanx of the 5th finger.

Deliberate curation decisions

  • Added frequency only where the abstract directly gave a percentage tied to the phenotype.
  • Left onset unmodeled because the reviewed abstracts did not provide clean onset statements for the selected phenotypes.
  • Softened unsupported wording such as "common" when the evidence was qualitative only or when cohort estimates conflicted.
  • Did not add hypertelorism, depressed nasal bridge, or widened pubic symphysis because the available abstract evidence in hand was not specific enough for a clean phenotype-level assertion with confident HPO grounding in this pass.