Pyle metaphyseal dysplasia

disorder

SNOMED 27837003CUI C0265294

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

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

Decreased bone mineral density Z score

Always present (100%)HP:0004349

Thin cortices

Always present (100%)HP:0002753

Widened metaphyses

Always present (100%)HP:0003016

Erlenmeyer flask femora

Very frequent (80-99%)HP:0004975

Genu valga

Very frequent (80-99%)HP:0002857

Angle class 3 malocclusion

Frequent (30-79%)HP:0000689

Aplasia of paranasal sinuses

Frequent (30-79%)HP:0002689

Craniofacial osteosclerosis

Frequent (30-79%)HP:0005464

Dental cavities

Frequent (30-79%)HP:0000670

Enlarged metaphyses

Frequent (30-79%)HP:0003051

Increased susceptibility to fractures

Frequent (30-79%)HP:0002659

Mandibular hyperplasia

Frequent (30-79%)HP:0000303

Medial widening of clavicles

Frequent (30-79%)HP:0006599

Protruding ear

Frequent (30-79%)HP:0000411

Arthritic pain

Occasional (5-29%)HP:0002829

Back pain

Occasional (5-29%)HP:0003418

Cobb angle greater than ten degrees

Occasional (5-29%)HP:0002650

Delayed eruption of permanent teeth

Occasional (5-29%)HP:0000696

Delayed eruption of teeth

Occasional (5-29%)HP:0000684

Delayed loss of deciduous teeth

Occasional (5-29%)HP:0006335

Extra bones within cranial sutures

Occasional (5-29%)HP:0002645

Flattened vertebral bodies

Occasional (5-29%)HP:0000926

Muscle weakness

Occasional (5-29%)HP:0001324

Outward turned elbows

Occasional (5-29%)HP:0002967

Thin skull bone

Occasional (5-29%)HP:0010539

Abnormality of the chest

HP:0000765

Decreased pneumatization of frontal sinus

HP:0002738

Increased thickness of cranium

HP:0002684

Limited forearm extension

HP:0001377

Metaphyseal dysplasia

HP:0100255

Related Conditions

Hereditary disorder of musculoskeletal system(parent)

Recessive hereditary disorder (autosomal)(parent)

Dysplasia with increased bone density(parent)

Congenital anomaly of skeletal bone(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 27837003
UMLS CUI: C0265294
Fully Specified Name: Pyle metaphyseal dysplasia (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

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.