hydrops-ectopic calcification-moth-eaten skeletal dysplasia
MeSH: C535858ORPHA: 1426
Overview
lethality and affected fetuses are considered as nonviable
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 hydrops-ectopic calcification-moth-eaten skeletal dysplasia, sourced from HPO and Orphanet clinical annotations.
MicrognathiaNarrow chestPlatyspondylyLymphedemaBrachydactylyCalvarial skull defectAbnormal leukocyte morphologyMicromeliaAbnormal form of the vertebral bodiesDecreased skull ossificationAnterior rib punctate calcificationsSevere short-limb dwarfismRhizomeliaAbnormal pelvis bone ossificationMidface retrusionAbnormal bone ossificationAbnormally ossified vertebrae
Classification & Codes
MeSH Code
C535858Orphanet Code
ORPHA:1426hydrops-ectopic calcification-moth-eaten skeletal dysplasia
| MeSH | C535858 |
| Orphanet | ORPHA:1426 |
| Treatments | 0 drug(s) |
| Symptoms on record | 17 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO