lethal Kniest-like dysplasia
MeSH: C537208ORPHA: 2347
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 lethal Kniest-like dysplasia, sourced from HPO and Orphanet clinical annotations.
Cleft palateMacrocephalyWide anterior fontanelLow-set earsShort neckShort ribsNarrow chestAnterior rib cuppingPlatyspondylyHypoplastic iliaEdemaBrachydactylyProtuberant abdomenPolyhydramniosBreech presentationAtrial septal defectTalipes equinovarusAbnormal cartilage morphologyFlared metaphysisAbnormal ischium morphologyCoronal cleft vertebraeMesomelic/rhizomelic limb shorteningBroad long bonesAbnormal cartilage matrixHypoplastic vertebral bodiesSevere short-limb dwarfismFlat face
Classification & Codes
MeSH Code
C537208Orphanet Code
ORPHA:2347lethal Kniest-like dysplasia
| MeSH | C537208 |
| Orphanet | ORPHA:2347 |
| Treatments | 0 drug(s) |
| Symptoms on record | 27 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO