Craniometadiaphyseal dysplasia wormian bone type

disorder

SNOMED 725099009CUI C4510809

Overview

Craniometadiaphyseal dysplasia wormian bone 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.

Abnormal shape of shaft of long bone

Very frequent (80-99%)HP:0000940

Abnormal temporal bone morphology

Very frequent (80-99%)HP:0009911

Abnormality of ossification of cranium

Very frequent (80-99%)HP:0002703

Abnormality of the feet

Very frequent (80-99%)HP:0001760

Big calvaria

Very frequent (80-99%)HP:0000256

Biparietal bossing

Very frequent (80-99%)HP:0000242

Broad femoral neck

Very frequent (80-99%)HP:0006429

Broad ribs

Very frequent (80-99%)HP:0000885

Coxa valga deformity

Very frequent (80-99%)HP:0002673

Curly hair

Very frequent (80-99%)HP:0002212

Down-slanting palpebral fissure

Very frequent (80-99%)HP:0000494

Extra bones within cranial sutures

Very frequent (80-99%)HP:0002645

High arched palate

Very frequent (80-99%)HP:0000218

Hypoplastic mandible

Very frequent (80-99%)HP:0000347

Increased bone mineral density

Very frequent (80-99%)HP:0011001

Obtuse angle of mandible

Very frequent (80-99%)HP:0005446

Osteopenia

Very frequent (80-99%)HP:0000938

Overtubulated long bones

Very frequent (80-99%)HP:0006391

Protruding eyes

Very frequent (80-99%)HP:0000520

Protruding forehead

Very frequent (80-99%)HP:0011220

Shortened long tubular bones of the hand

Very frequent (80-99%)HP:0001248

Thin cortices

Very frequent (80-99%)HP:0002753

Thin cranial bone

Very frequent (80-99%)HP:0010539

Vertebral arch abnormalities

Very frequent (80-99%)HP:0008438

Wider-than-typical soft spot of skull

Very frequent (80-99%)HP:0000260

Zygomatic flattening

Very frequent (80-99%)HP:0000272

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Craniometadiaphyseal dysplasia(parent)

Quick Facts

SNOMED CT: 725099009
UMLS CUI: C4510809
Fully Specified Name: Craniometadiaphyseal dysplasia wormian bone 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.