Crouzon syndrome with acanthosis nigricans

disorder

SNOMED 702361006CUI C2677099

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Decreased projection of midface

Always present (100%)HP:0011800

Acanthosis nigricans

Very frequent (80-99%)HP:0000956

Frontal protuberance

Very frequent (80-99%)HP:0002007

High forehead

Very frequent (80-99%)HP:0000348

Abnormal metacarpal morphology

Frequent (30-79%)HP:0005916

Abnormal vertebral bodies

Frequent (30-79%)HP:0003312

Brachydactyly

Frequent (30-79%)HP:0001156

Cerebellar hypoplasia/atrophy

Frequent (30-79%)HP:0007360

Chiari malformation

Frequent (30-79%)HP:0002308

Choanal atresia

Frequent (30-79%)HP:0000453

Deficiency of upper jaw bones

Frequent (30-79%)HP:0000327

Eye drop

Frequent (30-79%)HP:0000508

Hearing loss, conductive

Frequent (30-79%)HP:0000405

Increased distance between eyes

Frequent (30-79%)HP:0000316

Inflammatory abnormality of the eye

Frequent (30-79%)HP:0100533

Nonsyndromal hydrocephalus

Frequent (30-79%)HP:0000238

Prominent globes

Frequent (30-79%)HP:0000520

Pseudotumor cerebri

Frequent (30-79%)HP:0002516

Squint

Frequent (30-79%)HP:0000486

Tall shaped head

Frequent (30-79%)HP:0000262

Zygomatic flattening

Frequent (30-79%)HP:0000272

Abnormal palate morphology

Occasional (5-29%)HP:0000174

Abnormality of the sacrum

Occasional (5-29%)HP:0005107

Hooked nose

Occasional (5-29%)HP:0000444

Impaired vision

Occasional (5-29%)HP:0000505

Migraine headache

Occasional (5-29%)HP:0002076

Optic atrophy

Occasional (5-29%)HP:0000648

Respiratory function loss

Occasional (5-29%)HP:0002093

Deformity of the skull

HP:0001363

Noncancerous mole

HP:0000995

Related Conditions

Acanthosis nigricans(parent)

Crouzon syndrome(parent)

Hereditary disorder of the integument(parent)

Fibroblast growth factor receptor 3-related craniosynostosis(parent)

Quick Facts

SNOMED CT: 702361006
UMLS CUI: C2677099
Fully Specified Name: Crouzon syndrome with acanthosis nigricans (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.