SHOX-related short stature

ORPHA: 314795

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with SHOX-related short stature, sourced from HPO and Orphanet clinical annotations.

High palateMicrognathiaShort neckShort statureObesityShort footScoliosisGenu valgumCubitus valgusTibial bowingForearm undergrowthMadelung deformityLower limb undergrowthSkeletal muscle hypertrophyUlnar radial head dislocationEpisodic ketoacidosis

Classification & Codes

Orphanet Code

ORPHA:314795
SHOX-related short stature
OrphanetORPHA:314795
Treatments0 drug(s)
Symptoms on record16 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO