Cerebrooculonasal syndrome

disorder

SNOMED 720855003CUI C1854108

Overview

Cerebrooculonasal 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.

Cognitive delay

Always present (100%)HP:0001263

Proboscis

Always present (100%)HP:0012806

Absence of eyeballs

Very frequent (80-99%)HP:0000528

Blindness

Very frequent (80-99%)HP:0000618

Deformity of the nostrils

Very frequent (80-99%)HP:0005288

Dilated cerebral ventricle

Very frequent (80-99%)HP:0002119

Double ring sign

Very frequent (80-99%)HP:0000609

Growth delay as children

Very frequent (80-99%)HP:0008897

Increased distance between eyes

Very frequent (80-99%)HP:0000316

Increased width of the forehead

Very frequent (80-99%)HP:0000337

Large facies

Very frequent (80-99%)HP:0100729

Mongoloid slant

Very frequent (80-99%)HP:0000582

Underdeveloped brows

Very frequent (80-99%)HP:0009891

Wide cranium shape

Very frequent (80-99%)HP:0000248

Abnormal shape of nervous system

Frequent (30-79%)HP:0012639

Abnormality of the tragus

Frequent (30-79%)HP:0009912

Bifid skull

Frequent (30-79%)HP:0002084

Cleft of palate

Frequent (30-79%)HP:0000175

Epilepsy

Frequent (30-79%)HP:0001250

High arched palate

Frequent (30-79%)HP:0000218

Hypoplasia of penis

Frequent (30-79%)HP:0008736

Increased length of philtrum

Frequent (30-79%)HP:0000343

Increased size of skull

Frequent (30-79%)HP:0000256

Large pinnae

Frequent (30-79%)HP:0000400

Nonprogressive mental retardation

Frequent (30-79%)HP:0001249

Palpebronasal fold

Frequent (30-79%)HP:0000286

Postaxial hand polydactyly

Frequent (30-79%)HP:0001162

Posteriorly angulated ears

Frequent (30-79%)HP:0000358

Single median incisor

Frequent (30-79%)HP:0006315

Sparse eyebrow

Frequent (30-79%)HP:0045075

Related Conditions

Autosomal dominant hereditary disorder(parent)

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

Congenital anomaly of central nervous system(parent)

Hereditary disorder of nervous system(parent)

Developmental hereditary disorder(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 720855003
UMLS CUI: C1854108
Fully Specified Name: Cerebrooculonasal 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.