Gnathodiaphyseal dysplasia syndrome

disorder

SNOMED 715568002CUI C1833736

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.

Bowed long bones

Very frequent (80-99%)HP:0006487

Broad cortex of long bones

Very frequent (80-99%)HP:0000935

Wide jaw

Very frequent (80-99%)HP:0012802

Mandibular osteomyelitis

Frequent (30-79%)HP:0007626

Osteopenia

Frequent (30-79%)HP:0000938

Cobb angle greater than ten degrees

Occasional (5-29%)HP:0002650

Frequent fractures

Occasional (5-29%)HP:0002757

Diaphyseal cortical sclerosis

HP:0005045

Increased susceptibility to fractures

HP:0002659

Osteomyelitis

HP:0002754

Related Conditions

Autosomal dominant hereditary disorder(parent)

Disorganised development of cartilaginous and fibrous components of the skeleton(parent)

Connective tissue hereditary disorder(parent)

Hereditary disorder of musculoskeletal system(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 715568002
UMLS CUI: C1833736
Fully Specified Name: Gnathodiaphyseal dysplasia syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 10

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.