Metaphyseal chondrodysplasia, Spahr type

disorder

SNOMED 254084008CUI C0432225

Overview

Metaphyseal chondrodysplasia, Spahr type is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Bowed lower limbs

Always present (100%)HP:0002979

Metaphyseal dysplasia

Always present (100%)HP:0100255

Abnormal metaphysis morphology

Very frequent (80-99%)HP:0000944

Bowed long bones

Very frequent (80-99%)HP:0006487

Decreased bone mineral density Z score

Very frequent (80-99%)HP:0004349

Delayed skeletal development

Very frequent (80-99%)HP:0002750

Developmental dysplasia of the hip

Very frequent (80-99%)HP:0001385

Gait disturbance

Very frequent (80-99%)HP:0001288

Genua vara

Very frequent (80-99%)HP:0002970

Progressive leg bowing

Very frequent (80-99%)HP:0006409

Prominent swayback

Very frequent (80-99%)HP:0003307

Short lower limbs

Very frequent (80-99%)HP:0006385

Short stature, severe disproportionate

Very frequent (80-99%)HP:0003498

Anomaly of the epiphyses

Frequent (30-79%)HP:0005930

Decreased body height

Frequent (30-79%)HP:0004322

Dental problems

Frequent (30-79%)HP:0000164

Osteochondritis dissecans

Frequent (30-79%)HP:0010886

Pain under knee cap

Frequent (30-79%)HP:0030839

Rotting teeth

Frequent (30-79%)HP:0000670

Scoliosis

Frequent (30-79%)HP:0002650

Delayed motor milestones

HP:0001270

Genu valga

HP:0002857

Increased bone density in wide portion of long bone

HP:0004979

Metaphyseal chondrodysplasia

HP:0005871

Waddling gait

HP:0002515

Widened metaphyses

HP:0003016

Related Conditions

Metaphyseal chondrodysplasia(parent)

Quick Facts

SNOMED CT: 254084008
UMLS CUI: C0432225
Fully Specified Name: Metaphyseal chondrodysplasia, Spahr type (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 26

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.