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Hypoplasia and coloboma of alar cartilage with telecanthus syndrome

disorder
SNOMED 722284009CUI C4302677

Overview

Hypoplasia and coloboma of alar cartilage with telecanthus 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.

Broad flat nasal bridge
Very frequent (80-99%)HP:0000431
Hooked nose
Very frequent (80-99%)HP:0000444
Increased distance between eyes
Very frequent (80-99%)HP:0000316
Increased intercanthal distance
Very frequent (80-99%)HP:0000506
Non-midline cleft of the upper lip
Very frequent (80-99%)HP:0100335
Nostril coloboma
Very frequent (80-99%)HP:0003191
Small nasal alae
Very frequent (80-99%)HP:0000430

Related Conditions

Multiple malformation syndrome with facial defects as major feature(parent)
Congenital anomaly of cartilage(parent)
Recessive hereditary disorder (autosomal)(parent)
Congenital anomaly of eyelid(parent)
Congenital hypoplasia of nose(parent)
Connective tissue hereditary disorder(parent)
Hereditary disorder of musculoskeletal system(parent)
Hereditary disorder of the visual system(parent)
Congenital cleft nose(parent)
Developmental hereditary disorder(parent)
Abnormal ala nasi morphology(parent)
Abnormal nasal skeleton morphology(parent)

Quick Facts

SNOMED CT
722284009
UMLS CUI
C4302677
Fully Specified Name
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
7
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.