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Macrostomia, preauricular tag, external ophthalmoplegia syndrome
disorderSNOMED 723366001CUI C4509840
Overview
Macrostomia, preauricular tag, external ophthalmoplegia 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.
Abnormality of mouth shape
Frequent (30-79%)HP:0011338
Eye drop
Frequent (30-79%)HP:0000508
Eye muscle paralysis
Frequent (30-79%)HP:0000602
Preauricular earpits
Frequent (30-79%)HP:0004467
Skin tag on the posterior cheek
Frequent (30-79%)HP:0000384
Increased distance between eyes
Occasional (5-29%)HP:0000316
Large mouth
Occasional (5-29%)HP:0000154
Underdeveloped tragus
Occasional (5-29%)HP:0011272
Related Conditions
Autosomal dominant hereditary disorder(parent)
External ophthalmoplegia(parent)
Multiple system malformation syndrome(parent)
Skin tag(parent)
Congenital abnormality of oral cavity(parent)
Digestive system hereditary disorder(parent)
Hereditary disorder of the integument(parent)
Hereditary disorder of nervous system(parent)
Hereditary disorder of the visual system(parent)
Benign neoplasm of skin of face(parent)
Hereditary disorder of musculoskeletal system(parent)
Developmental hereditary disorder(parent)
Fetal and/or neonatal disorder of integument(parent)
Quick Facts
- SNOMED CT
- 723366001
- UMLS CUI
- C4509840
- Fully Specified Name
- Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 8
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.