Treacher Collins syndrome

disorder

SNOMED 82203000CUI C0242387

Overview

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

Research Evidence

Peer-reviewed studies linked via MeSH term "Dysostosis, Mandibulofacial" from the MEDLINE/PubMed database.

Sort:

Miller Fischer syndrome after COVID-19 infection and vaccine: a systematic review.

[object Object], [object Object], [object Object] et al. · Acta Neurol Belg · 2023

PMID: 37468803Meta-AnalysisFull text (PMC)

A systematic review on Treacher Collins syndrome: Correlation between molecular genetic findings and clinical severity.

[object Object], [object Object], [object Object] et al. · Clin Genet · 2023

PMID: 36203321Meta-Analysis

Prevention methods for Treacher Collins syndrome: A systematic review.

[object Object], [object Object], [object Object] et al. · Int J Pediatr Otorhinolaryngol · 2020

PMID: 32361149Meta-Analysis

Accessory Auricles: Systematic Review of Definition, Associated Conditions, and Recommendations for Clinical Practice.

[object Object], [object Object] · J Craniofac Surg · 2018

PMID: 29239919Meta-Analysis

Treacher Collins Syndrome: A Systematic Review of Evidence-Based Treatment and Recommendations.

[object Object], [object Object], [object Object] et al. · Plast Reconstr Surg · 2016

PMID: 26710023Meta-Analysis

[Treacher Collins Syndrome 2 caused by a novel pathogenic variant in: clinical report and literature review].

[object Object], [object Object], [object Object] et al. · Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi · 2024

PMID: 39289962Review

Children with Rare Nager Syndrome-Literature Review, Clinical and Physiotherapeutic Management.

[object Object], [object Object], [object Object] et al. · Genes (Basel) · 2023

PMID: 38254920ReviewFull text (PMC)

Tessier's Cleft Number 6 Revisited: A Series of 26 new Cases and Literature Review of 44.

[object Object], [object Object], [object Object] et al. · Cleft Palate Craniofac J · 2023

PMID: 35285292Review

[Clinical case analysis and literature review of mandibulofacial dysostosis with microcephaly syndrome].

[object Object], [object Object], [object Object] et al. · Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi · 2022

PMID: 34979617ReviewFull text (PMC)

Protein production, kinetic and biophysical characterization of three human dihydroorotate dehydrogenase mutants associated with Miller syndrome.

[object Object], [object Object], [object Object] et al. · Nucleosides Nucleotides Nucleic Acids · 2022

PMID: 35094635Review

Search all PubMed articles for Treacher Collins syndrome

Research data from MEDLINE/PubMed

Signs & Symptoms

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

Dysplastic ears

Always present (100%)HP:0000377

Notched lower eyelid

Always present (100%)HP:0000652

Abnormal skeletal development

Very frequent (80-99%)HP:0002652

Abnormality of bone mineral density

Very frequent (80-99%)HP:0004348

Decreased projection of mandible

Very frequent (80-99%)HP:0000347

Distortion of face

Very frequent (80-99%)HP:0001999

Down-slanting palpebral fissure

Very frequent (80-99%)HP:0000494

Flat midface

Very frequent (80-99%)HP:0011800

Hypotrophic malar bone

Very frequent (80-99%)HP:0000272

Hypotrophic maxilla

Very frequent (80-99%)HP:0000327

Open bite

Very frequent (80-99%)HP:0010807

Retrognathia

Very frequent (80-99%)HP:0000278

Small malar bone

Very frequent (80-99%)HP:0010669

Vertical facial insufficiency

Very frequent (80-99%)HP:0011219

Abnormality of the auricle

Frequent (30-79%)HP:0000356

Abnormality of the middle ear

Frequent (30-79%)HP:0000370

Absent external auditory canals

Frequent (30-79%)HP:0000413

Angle class 2 malocclusion

Frequent (30-79%)HP:0000689

Aplasia of eyelashes

Frequent (30-79%)HP:0000561

Broad flat nasal bridge

Frequent (30-79%)HP:0000431

Dental agenesis

Frequent (30-79%)HP:0009804

Eyelid coloboma

Frequent (30-79%)HP:0000625

Frontal protuberance

Frequent (30-79%)HP:0002007

Hearing loss, conductive

Frequent (30-79%)HP:0000405

Iris coloboma

Frequent (30-79%)HP:0000612

Low anterior hairline

Frequent (30-79%)HP:0000294

Microtia

Frequent (30-79%)HP:0008551

Narrow internal auditory canal

Frequent (30-79%)HP:0011386

Poor vision

Frequent (30-79%)HP:0000505

Posteriorly angulated ears

Frequent (30-79%)HP:0000358

Related Conditions

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

Hereditary disorder of musculoskeletal system(parent)

Autosomal hereditary disorder(parent)

Dysostosis of bone of skull(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 82203000
UMLS CUI: C0242387
Fully Specified Name: Treacher Collins 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.