Overview
Anophthalmia plus 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.
Absence of eyeballs
Very frequent (80-99%)HP:0000528
Abnormal nasal morphology
Frequent (30-79%)HP:0005105
Choanal atresia
Frequent (30-79%)HP:0000453
Cleft of palate
Frequent (30-79%)HP:0000175
Increased distance between eyes
Frequent (30-79%)HP:0000316
Non-midline cleft of the upper lip
Frequent (30-79%)HP:0100335
Posteriorly angulated ears
Frequent (30-79%)HP:0000358
Tessier cleft
Frequent (30-79%)HP:0002006
Abnormal spinal segmentation
Occasional (5-29%)HP:0003422
Absent/underdeveloped ear lobes
Occasional (5-29%)HP:0009906
Blepharophimosis
Occasional (5-29%)HP:0000581
Eyelid coloboma
Occasional (5-29%)HP:0000625
Finger pointing in a different direction than usual
Occasional (5-29%)HP:0004097
Iris coloboma
Occasional (5-29%)HP:0000612
Split spine
Occasional (5-29%)HP:0002414
Abnormally small eyeball
HP:0000568
Bilateral cleft lip
HP:0100336
Macrotia
HP:0000400
Neural tube defect
HP:0045005
Right and left cleft palate
HP:0100337
Unicornuate uterus
HP:0031909
Quick Facts
- SNOMED CT
- 720496006
- UMLS CUI
- C1833339
- Fully Specified Name
- Anophthalmia plus syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 21
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.