Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome

disorder

SNOMED 733468006CUI C4518794

Overview

Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome 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.

Boxer's nose deformity

Very frequent (80-99%)HP:0011120

Dentinogenesis imperfecta

Very frequent (80-99%)HP:0000703

Abnormal compact bone morphology

Frequent (30-79%)HP:0003103

Decreased body height

Frequent (30-79%)HP:0004322

Dolichocephaly

Frequent (30-79%)HP:0000268

Extra bones within cranial sutures

Frequent (30-79%)HP:0002645

Fullness around the eyes

Frequent (30-79%)HP:0000629

Hypoplasia involving bones of the upper limbs

Frequent (30-79%)HP:0009824

Increased distance between eyes

Frequent (30-79%)HP:0000316

Pathologic fracture

Frequent (30-79%)HP:0002756

Limitation of joint mobility

Occasional (5-29%)HP:0001376

Small feet

Occasional (5-29%)HP:0001773

Toe curvature

Occasional (5-29%)HP:0001863

Related Conditions

Dentinogenesis imperfecta(parent)

Dysplasia with decreased bone density(parent)

Hereditary disorder of musculoskeletal system(parent)

Quick Facts

SNOMED CT: 733468006
UMLS CUI: C4518794
Fully Specified Name: Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 13

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.