Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Eyelids stay open
Always present (100%)HP:0030001
Flat facial shape
Always present (100%)HP:0012368
High forehead
Always present (100%)HP:0000348
Abnormality of the eyelids
Very frequent (80-99%)HP:0000492
Cleft of upper lip
Very frequent (80-99%)HP:0000204
Distichiasis
Very frequent (80-99%)HP:0009743
Everted lower eyelids
Very frequent (80-99%)HP:0007651
Hypotrichosis
Very frequent (80-99%)HP:0008070
Abnormal eye
Frequent (30-79%)HP:0000478
Abnormality of vision
Frequent (30-79%)HP:0000504
Euryblepharon
Frequent (30-79%)HP:0012905
Hearing loss, conductive
Frequent (30-79%)HP:0000405
Increased distance between eyes
Frequent (30-79%)HP:0000316
Nail dysplasia
Frequent (30-79%)HP:0002164
Partial syndactyly
Frequent (30-79%)HP:0006101
Peg-shaped teeth
Frequent (30-79%)HP:0000698
Rotting teeth
Frequent (30-79%)HP:0000670
Abnormal hair quantity
Occasional (5-29%)HP:0011362
Absent anus
Occasional (5-29%)HP:0002023
Aplasia cutis congenita of vertex
Occasional (5-29%)HP:0004471
Choanal atresia
Occasional (5-29%)HP:0000453
Cutaneous syndactyly of digits
Occasional (5-29%)HP:0012725
Keratin cyst
Occasional (5-29%)HP:0200040
Neural tube defect
Occasional (5-29%)HP:0045005
High frontal hairline
Very rare (1-4%)HP:0009890
Clinodactyly
HP:0030084
Missing between one and six teeth
HP:0000668
Small nail
HP:0001792
Quick Facts
- SNOMED CT
- 717911008
- UMLS CUI
- C1861536
- Fully Specified Name
- Blepharocheilodontic syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 28
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.