Kniest dysplasia
ICD-10: Q77.8MeSH: C537207ORPHA: 2746
Overview
Human disease
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 Kniest dysplasia, sourced from HPO and Orphanet clinical annotations.
Large fontanellesMacrocephalyBlue scleraePectus excavatumNarrow chestAbnormal metaphysis morphologyBrachydactylyTapered fingerHypotoniaJoint stiffnessSplenomegalyFrontal bossingRespiratory insufficiencyRecurrent respiratory infectionsHepatomegalyDelayed skeletal maturationHypoplastic pubic boneHypoplastic ischiaSquared iliac bonesShort noseSevere short statureDepressed nasal bridgeFlat occiputAbnormal epiphysis morphologyHypoplastic vertebral bodiesBroad thumbAbnormally ossified vertebrae
Classification & Codes
ICD-10 Code
Q77.8MeSH Code
C537207Orphanet Code
ORPHA:2746Kniest dysplasia
| ICD-10 | Q77.8 |
| MeSH | C537207 |
| Orphanet | ORPHA:2746 |
| Treatments | 0 drug(s) |
| Symptoms on record | 27 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO