hypochondroplasia
ICD-10: Q77.4MeSH: C562937ORPHA: 429
Overview
osteochondrodysplasia that has material basis in mutation in the FGFR3 gene which affects ossification of cartilage and results in short limb dwarfism
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 hypochondroplasia, sourced from HPO and Orphanet clinical annotations.
MacrocephalyAbnormal metaphysis morphologyBrachydactylyIntellectual disabilityShort toeAbnormal pelvic girdle bone morphologyScoliosisSkeletal dysplasiaOsteoarthritisAbnormal femur morphologyGenu varumMicromeliaHyperlordosisAbnormal form of the vertebral bodiesSpinal canal stenosisBowing of the long bonesAbnormality of the elbowSleep apneaChildhood onset short-limb short statureJoint hypermobilityShort stature
Classification & Codes
ICD-10 Code
Q77.4MeSH Code
C562937Orphanet Code
ORPHA:429hypochondroplasia
| ICD-10 | Q77.4 |
| MeSH | C562937 |
| Orphanet | ORPHA:429 |
| Treatments | 0 drug(s) |
| Symptoms on record | 21 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO