McKusick type metaphyseal dysplasia

MeSH: C535916ORPHA: 175

Contents

1. Overview
2. Available Treatments
3. Clinical Presentation
4. Classification & Codes

Overview

metaphyseal dysplasia that results in short-limbed dwarfism and fine sparse hair

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 McKusick type metaphyseal dysplasia, sourced from HPO and Orphanet clinical annotations.

Convex nasal ridgeShort neckStrabismusVisual impairmentBlue scleraeAbnormal diaphysis morphologyAbnormal metaphysis morphologyHypotoniaLimited elbow extensionFailure to thriveCardiomyopathyAbnormal cardiac septum morphologyAbnormality of the pancreasDecreased total neutrophil countRespiratory insufficiencyEEG abnormalityScoliosisSkeletal dysplasiaTracheal stenosisHypocalcemiaTibial bowingMicromeliaMesomeliaHyperlordosisAbnormal form of the vertebral bodiesShort palmBiconvex vertebral bodiesDiaphyseal undertubulationMetaphyseal chondrodysplasiaAbnormal epiphysis morphologyBowing of the long bonesAbnormal retinal pigmentationSparse hairHigh hypermetropiaDisproportionate short-limb short statureRhizomeliaAbnormal distal phalanx morphology of fingerSpinal dysraphismAbnormal bone ossificationSparse eyebrowMetaphyseal dysplasiaAbnormally ossified vertebraeLarge faceAbnormal palate morphologyGingival overgrowthMyopiaNarrow chestReduced tendon reflexesMalabsorptionAbnormal hip bone morphologyDepressed nasal bridgeFlaring of lower rib cageMucopolysacchariduriaProminent foreheadBrachycephalyEpicanthusMacrotiaWide nasal bridgeDepressed nasal ridgeAnteverted naresPectus carinatumAbnormal rib morphologySacral dimpleAnemiaHepatomegalyAganglionic megacolonAbnormal pelvic girdle bone morphologyDelayed skeletal maturationAbnormality of chromosome stabilityDecreased circulating immunoglobulin concentrationAccelerated skeletal maturationAplasia/Hypoplasia affecting the eyeShort thoraxAplasia/Hypoplasia of the abdominal wall musculatureHeart blockCognitive impairmentSmall handJoint hypermobilityPosteriorly rotated ears

Classification & Codes

MeSH Code

C535916

Orphanet Code

ORPHA:175

McKusick type metaphyseal dysplasia

MeSH	`C535916`
Orphanet	`ORPHA:175`
Treatments	0 drug(s)
Symptoms on record	79 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO