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Achondroplasia

Achondroplasia phenotype curation notes

Codex MONDO:0007037

Achondroplasia phenotype curation notes

Date: 2026-04-18 Curator: Codex Issue: monarch-initiative/dismech#1449

Scope

Focused only on strengthening kb/disorders/Achondroplasia.yaml phenotype coverage. Priority was given to cohort, natural-history, and complication-specific PubMed abstracts that could support exact quoted snippets for phenotype assertions.

Key sources used

  • PMID:32803853 Supports disproportionate short stature as a defining phenotype.
  • PMID:29972438 Natural-history cohort supporting macrocephaly, high/prominent forehead, trident hands, genu varum, rhizomelic long-bone shortening, motor delay, speech delay, obesity, sleep apnea, middle-ear dysfunction, and occasional hydrocephalus.
  • PMID:37072824 Supports prominent forehead and midface/maxillary retrusion in a dedicated craniofacial cohort.
  • PMID:37493935 Supports childhood thoracolumbar kyphosis with frequent spontaneous resolution by age 10.
  • PMID:27927547 Supports scoliosis and thoracolumbar kyphosis prevalence in a large orthopedic cohort.
  • PMID:32883660 Supports infant foramen magnum stenosis severity spectrum on MRI.
  • PMID:38554024 Confirms frequent foramen magnum stenosis in a young-child cohort.
  • PMID:32864841 Supports lifespan complications including cervical/lumbar stenosis, childhood elbow contractures and radial head dislocations, and central/obstructive sleep apnea.
  • PMID:32170149 Refines adult lumbar spinal stenosis phenotype.
  • PMID:40675782 Supports pediatric obstructive and central sleep apnea by polysomnography.
  • PMID:39660705 Supports otitis media with effusion and predominantly conductive hearing loss.
  • PMID:34736503 Confirms persistent conductive/mixed hearing loss burden in adults.
  • PMID:3228140 Supports obesity beginning in early childhood and remaining prevalent at all ages.
  • PMID:22409389 Supports delayed gross motor and later communication development.
  • PMID:33579320 Supports cautious retention of hydrocephalus as an occasional pediatric complication.

Curation decisions

  • Removed unsupported phenotype frequency qualifiers instead of preserving broad VERY_FREQUENT/FREQUENT claims without explicit evidence.
  • Removed unsupported or weakly grounded phenotype entries rather than keeping them on general clinical familiarity alone.
  • Replaced imprecise mappings with more grounded HPO terms, including:
  • HP:0008905 Rhizomelia
  • HP:0011220 Prominent forehead
  • HP:0031353 Otitis media with effusion
  • HP:0000405 Conductive hearing impairment
  • HP:0002194 Delayed gross motor development
  • HP:0000750 Delayed speech and language development

Open caution

Lumbar hyperlordosis and brachydactyly were not retained as standalone phenotypes because the current source set did not provide sufficiently direct abstract-level support for a clean, evidence-backed entry.