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Kniest Dysplasia Phenotype Curation Notes

Date: 2026-04-18

Scope: targeted phenotype-section cleanup for kb/disorders/Kniest_Dysplasia.yaml.

Main phenotype sources used

  • PMID:10406661 supports the core overview phenotype: short trunk and limbs, kyphoscoliosis, midface hypoplasia, severe myopia, and hearing loss.
  • PMID:25592122 provides the strongest disease-specific ophthalmic series and also supports enlarged joints with restricted mobility, marked hand arthropathy, clefting abnormalities, hearing impairment, abnormal vitreous architecture, high myopia, and retinal detachment risk.
  • PMID:40475174 supports narrow thorax, short extremities, short stature, cleft palate, platyspondyly, coronal clefts, and dumbbell-shaped long bones in an infant with molecularly confirmed disease.
  • PMID:41378240 supports adult short stature, cataract, retinal detachment, kyphoscoliosis, and epiphyseal enlargement.
  • PMID:2931448 supports abnormal odontoid morphology and craniofacial retrusion.
  • PMID:27303468 supports clubfoot and radial head dislocation as reported radiographic associations in a 4-patient Kniest series.
  • PMID:14644246 supports retinal detachment in an adolescent patient.
  • PMID:7700721 supports cleft palate and progressive arthropathy as classic Kniest manifestations.

Curatorial decisions

  • Added missing clinically important phenotypes: hand arthropathy, narrow thorax, cataract, clubfoot, and radial head dislocation.
  • Replaced the unsupported Malar Flattening entry with PMID-backed Midface Hypoplasia.
  • Kept odontoid involvement but rewrote it to direct Kniest evidence instead of mixed-COL2A1 cohort frequencies.
  • Removed the weak Coxa Vara phenotype because the cited evidence did not actually support a Kniest-specific coxa vara claim.
  • Removed or softened mixed-cohort frequency/onset statements for myopia, retinal detachment, hearing loss, and odontoid hypoplasia unless directly supported by Kniest-specific abstracts.