metatropic dysplasia

MeSH: C537356ORPHA: 2635

Overview

metatropic 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 metatropic dysplasia, sourced from HPO and Orphanet clinical annotations.

High foreheadAbnormal rib morphologyNarrow chestAbnormal metaphysis morphologyJoint stiffnessScoliosisSkeletal dysplasiaKyphosisHalberd-shaped pelvisMicromeliaAbnormal cortical bone morphologyAbnormal form of the vertebral bodiesAbnormal enchondral ossificationSevere short statureAbnormal intervertebral disk morphologyDepressed nasal bridgeHypoplastic cervical vertebraeCoarse metaphyseal trabecularizationLong thoraxCleft palateHydrocephalusCataractClinodactyly of the 5th fingerAplasia/Hypoplasia of the lungsCamptodactyly of fingerPosteriorly rotated ears

Classification & Codes

MeSH Code

C537356

Orphanet Code

ORPHA:2635
metatropic dysplasia
MeSHC537356
OrphanetORPHA:2635
Treatments0 drug(s)
Symptoms on record26 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO