Cerebro-oculo-dento-auriculo-skeletal syndrome

disorder

SNOMED 717772000CUI C1838180

Overview

Cerebro-oculo-dento-auriculo-skeletal 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.

Caudate degeneration

Always present (100%)HP:0002340

Cerebellar cortex degeneration

Always present (100%)HP:0008278

Choreoathetosis

Always present (100%)HP:0001266

Enamel dysplasia

Always present (100%)HP:0006297

Epiphyseal ossification delay

Always present (100%)HP:0002663

Generalised decreased muscle tone

Always present (100%)HP:0001290

Metaphyseal dysplasia

Always present (100%)HP:0100255

Pes valgus

Always present (100%)HP:0008081

PFO

Always present (100%)HP:0001655

Small odontoid peg

Always present (100%)HP:0003311

Abnormal vertebral bodies

Very frequent (80-99%)HP:0003312

Anomaly of the epiphyses

Very frequent (80-99%)HP:0005930

Brachydactyly

Very frequent (80-99%)HP:0001156

Central cleft of nose

Very frequent (80-99%)HP:0004122

coronal cleft of vertebrae

Very frequent (80-99%)HP:0003417

Crumpled ear

Very frequent (80-99%)HP:0009901

Decreased body height

Very frequent (80-99%)HP:0004322

Delayed eruption of teeth

Very frequent (80-99%)HP:0000684

Delayed skeletal development

Very frequent (80-99%)HP:0002750

Dystrophic tooth enamel

Very frequent (80-99%)HP:0000682

Flat facial shape

Very frequent (80-99%)HP:0012368

Flat nasal bridge

Very frequent (80-99%)HP:0005280

Genu valga

Very frequent (80-99%)HP:0002857

Lens opacities

Very frequent (80-99%)HP:0000518

Misshapened teeth

Very frequent (80-99%)HP:0006482

No development of motor milestones

Very frequent (80-99%)HP:0001270

Nostrils anteverted

Very frequent (80-99%)HP:0000463

Overfolded helix

Very frequent (80-99%)HP:0000396

Palpebronasal fold

Very frequent (80-99%)HP:0000286

Psychomotor development deficiency

Very frequent (80-99%)HP:0001263

Related Conditions

Multiple malformation syndrome with facial defects as major feature(parent)

Recessive hereditary disorder (autosomal)(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 717772000
UMLS CUI: C1838180
Fully Specified Name: Cerebro-oculo-dento-auriculo-skeletal syndrome (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.