bone dysplasia, lethal Holmgren type
MeSH: C565896ORPHA: 1842
Available Treatments (0)
No treatments linked yet
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Clinical Presentation
Signs and symptoms associated with bone dysplasia, lethal Holmgren type, sourced from HPO and Orphanet clinical annotations.
Short ribsNarrow chestWeight lossRespiratory insufficiencySkeletal dysplasiaAbnormal femur morphologyMicromeliaSevere short-limb dwarfismRhizomeliaHigh foreheadHearing abnormalityDepressed nasal ridgeAnteverted naresShort neckAbnormal diaphysis morphologyAbnormal thumb morphologyHypotoniaJoint dislocationBell-shaped thoraxFrontal bossingAbnormal epiphysis morphologyAbnormality of the elbowFlat faceAbnormal cardiovascular system morphologyMetaphyseal dysplasiaAbnormality of the handFailure to thriveAtrial septal defectHypertrophic cardiomyopathyPatent ductus arteriosusTalipesAnemiaDiarrheaNausea and vomitingRecurrent respiratory infectionsHepatomegalyRedundant neck skinHerniaJoint hypermobility
Classification & Codes
MeSH Code
C565896Orphanet Code
ORPHA:1842bone dysplasia, lethal Holmgren type
| MeSH | C565896 |
| Orphanet | ORPHA:1842 |
| Treatments | 0 drug(s) |
| Symptoms on record | 39 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO