Cole-Carpenter dysplasia

disorder

SNOMED 389199001CUI C1862178

Overview

Cole-Carpenter 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

Abnormal skeletal development

Very frequent (80-99%)HP:0002652

Abnormal vertebral bodies

Very frequent (80-99%)HP:0003312

Bowed long bones

Very frequent (80-99%)HP:0006487

Crumpled long bones

Very frequent (80-99%)HP:0006367

Decreased body height

Very frequent (80-99%)HP:0004322

Decreased projection of lower jaw

Very frequent (80-99%)HP:0000347

Decreased projection of midface

Very frequent (80-99%)HP:0011800

Delayed eruption of teeth

Very frequent (80-99%)HP:0000684

Frontal protuberance

Very frequent (80-99%)HP:0002007

Grey sclerae

Very frequent (80-99%)HP:0000592

Prominent eyes

Very frequent (80-99%)HP:0000520

Rib anomalies

Very frequent (80-99%)HP:0000772

Voice abnormality

Very frequent (80-99%)HP:0001608

Communicating hydrocephalus

Frequent (30-79%)HP:0001334

Defective tooth enamel

Frequent (30-79%)HP:0000682

Extra bones within cranial sutures

Frequent (30-79%)HP:0002645

Frequent fractures

Frequent (30-79%)HP:0002757

Hunched back

Frequent (30-79%)HP:0002808

Intrauterine growth retardation, IUGR

Frequent (30-79%)HP:0001511

Peripheral hypotonia

Frequent (30-79%)HP:0001252

Scoliosis

Frequent (30-79%)HP:0002650

Tall shaped head

Frequent (30-79%)HP:0000262

Cognitive delay

Occasional (5-29%)HP:0001263

Down-slanting palpebral fissure

Occasional (5-29%)HP:0000494

Joint ligamentous laxity

Occasional (5-29%)HP:0001382

Related Conditions

Dysplasia with decreased bone density(parent)

Genetic disease(parent)

Quick Facts

SNOMED CT: 389199001
UMLS CUI: C1862178
Fully Specified Name: Cole-Carpenter dysplasia (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.