Fibroblast growth factor receptor 3-related craniosynostosis

disorder

SNOMED 440350001CUI C1864436

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.

Anterior bulging of the globe of eye

Frequent (30-79%)HP:0000520

Broad big toe

Frequent (30-79%)HP:0010055

Broad thumbs

Frequent (30-79%)HP:0011304

Cone-shaped epiphyses

Frequent (30-79%)HP:0010579

Cone-shaped epiphyses of the fingers

Frequent (30-79%)HP:0010230

Craniosynostosis of coronal suture

Frequent (30-79%)HP:0004440

Decreased projection of midface

Frequent (30-79%)HP:0011800

Down-slanting palpebral fissure

Frequent (30-79%)HP:0000494

Eyelid ptosis

Frequent (30-79%)HP:0000508

Flattening of head

Frequent (30-79%)HP:0001357

Fused wrist bones

Frequent (30-79%)HP:0009702

Hearing impairment

Frequent (30-79%)HP:0000365

High arched palate

Frequent (30-79%)HP:0000218

Hypotrophic malar bone

Frequent (30-79%)HP:0000272

Increased distance between eyes

Frequent (30-79%)HP:0000316

Mental-retardation

Frequent (30-79%)HP:0001249

Narrow, high-arched roof of mouth

Frequent (30-79%)HP:0002705

Pseudotumor cerebri

Frequent (30-79%)HP:0002516

Recurrent middle ear infection

Frequent (30-79%)HP:0000403

Sensorineural deafness

Frequent (30-79%)HP:0000407

Short and broad skull

Frequent (30-79%)HP:0000248

Short hands

Frequent (30-79%)HP:0004279

Small feet

Frequent (30-79%)HP:0001773

Squint

Frequent (30-79%)HP:0000486

Tarsal bone synostosis

Frequent (30-79%)HP:0008368

Thimble-shaped middle bones of hand

Frequent (30-79%)HP:0006193

Big calvaria

Occasional (5-29%)HP:0000256

Brachydactyly

Occasional (5-29%)HP:0001156

Childhood attention deficit/hyperactivity disorder

Occasional (5-29%)HP:0007018

Curvature of digit

Occasional (5-29%)HP:0030084

Related Conditions

Muenke syndrome(child)

Crouzon syndrome with acanthosis nigricans(child)

Craniosynostosis syndrome(parent)

Quick Facts

SNOMED CT: 440350001
UMLS CUI: C1864436
Fully Specified Name: Fibroblast growth factor receptor 3-related craniosynostosis (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.