Acromesomelic Dysplasia Maroteaux Type phenotype issue 1456 2026 04 24

Phenotype curation note for issue #1456

Target file: kb/disorders/Acromesomelic_Dysplasia_Maroteaux_Type.yaml

Scope: - phenotype section only - add missing clinically important phenotypes only when directly PMID-backed - remove or soften unsupported frequency and wording

Primary human sources used: - PMID:34162036 - nine-patient AMDM series; supports acromesomelic shortening with spondylar dysplasia - PMID:35368703 - 2022 AMDM report; supports severe disproportionate short stature and short hands/feet, and notes normal intelligence - PMID:34178199 - mild AMDM case with useful full-text radiographic detail - PMID:32694885 - single-patient clinical and radiographic description - PMID:30359775 - unrelated AMDM families with core limb-shortening phenotype

Changes justified by the literature: - Removed unsupported frequency: OBLIGATE from short stature, acromesomelia, and brachydactyly because the accessible PMID-backed evidence did not directly support universal frequency. - Added Short Feet from PMID:35368703 and PMID:34178199. - Added Lumbar Interpedicular Narrowing from the radiographic description in PMID:34178199. - Strengthened acromesomelic limb-shortening evidence with the nine-patient series (PMID:34162036). - Softened wording where the literature was narrower than the previous text, including the cone-epiphysis description and the short-metacarpal description. - Removed model-organism evidence from the human Radial Bowing phenotype entry to keep the section human-clinical and phenotype-focused.

Phenotypes considered but not promoted to standalone entries: - elbow limitation - genu varum - frontal bossing / short nose - broad fingers

Reason: - available accessible PMID-backed evidence was indirect, review-like, or too inconsistent to support a clean standalone HPO-grounded entry without overclaiming.