Craniometadiaphyseal dysplasia

disorder

SNOMED 278833002CUI C0265292

Overview

Craniometadiaphyseal dysplasia 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.

Abnormal metaphysis morphology

Very frequent (80-99%)HP:0000944

Albers-Schonberg disease

Very frequent (80-99%)HP:0011002

Flat nasal bridge

Very frequent (80-99%)HP:0005280

Increased distance between eyes

Very frequent (80-99%)HP:0000316

Increased width of bridge of nose

Very frequent (80-99%)HP:0000431

Thick craniofacial bones

Very frequent (80-99%)HP:0004493

Abnormal skeletal development

Frequent (30-79%)HP:0002652

Increased intercanthal distance

Frequent (30-79%)HP:0000506

Abnormality of the cranial nerves

Occasional (5-29%)HP:0001291

Facial palsy

Occasional (5-29%)HP:0010628

Hearing loss, conductive

Occasional (5-29%)HP:0000405

Poor vision

Occasional (5-29%)HP:0000505

Sensorineural deafness

Occasional (5-29%)HP:0000407

Aplasia of paranasal sinuses

HP:0002689

Big calvaria

HP:0000256

Broad ribs

HP:0000885

Cobb angle greater than ten degrees

HP:0002650

Decreased body height

HP:0004322

Down-slanting palpebral fissure

HP:0000494

Elevated alkaline phosphatase

HP:0003155

Enlarged mandible

HP:0000303

Extra bones within cranial sutures

HP:0002645

Genu valga

HP:0002857

Genua vara

HP:0002970

High arched palate

HP:0000218

Hyperostosis of skull base

HP:0002694

Hypotrophic malar bone

HP:0000272

Inadequate arch length for tooth size

HP:0000678

Large eyes

HP:0001090

Low-set ears

HP:0000369

Related Conditions

Craniometadiaphyseal dysplasia wormian bone type(child)

Dysplasia with increased bone density(parent)

Osteochondrodysplasia with osteopetrosis(parent)

Quick Facts

SNOMED CT: 278833002
UMLS CUI: C0265292
Fully Specified Name: Craniometadiaphyseal 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.