Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Bulging forehead
Very frequent (80-99%)HP:0011220
Increased distance between eyes
Very frequent (80-99%)HP:0000316
Increased length of philtrum
Very frequent (80-99%)HP:0000343
Increased width of bridge of nose
Very frequent (80-99%)HP:0000431
Cerebellar vermis hypoplasia
Frequent (30-79%)HP:0001320
Cleft lip
Frequent (30-79%)HP:0410030
Cleft of palate
Frequent (30-79%)HP:0000175
Corpus callosum abnormality
Frequent (30-79%)HP:0001273
Decreased body height
Frequent (30-79%)HP:0004322
Dilated cerebral ventricle
Frequent (30-79%)HP:0002119
Distortion of face
Frequent (30-79%)HP:0001999
Eyelid ptosis
Frequent (30-79%)HP:0000508
Hairline point
Frequent (30-79%)HP:0000349
Hypospadias
Frequent (30-79%)HP:0000047
Increased intercanthal distance
Frequent (30-79%)HP:0000506
Laryngotracheal cleft
Frequent (30-79%)HP:0008751
Low intelligence
Frequent (30-79%)HP:0001249
Neurodevelopmental delay
Frequent (30-79%)HP:0012758
Nostrils anteverted
Frequent (30-79%)HP:0000463
Poor attention span
Frequent (30-79%)HP:0000736
Psychomotor development deficiency
Frequent (30-79%)HP:0001263
Specific learning disability
Frequent (30-79%)HP:0001328
Abnormal brain morphology
Occasional (5-29%)HP:0012443
Abnormal connection between trachea and esophagus
Occasional (5-29%)HP:0002575
Abnormality of the urinary system
Occasional (5-29%)HP:0000079
Absence of corpus callosum
Occasional (5-29%)HP:0001274
Absent anus
Occasional (5-29%)HP:0002023
Aortic coarctation
Occasional (5-29%)HP:0001680
Atria septal defect
Occasional (5-29%)HP:0001631
Autism spectrum disorder
Occasional (5-29%)HP:0000729
Related Conditions
Reproductive system hereditary disorder(parent)
Hereditary disorder of the urinary system(parent)
Multiple malformation syndrome, moderate short stature, facial(parent)
Sex-linked hereditary disorder(parent)
Congenital cleft larynx(parent)
Urethral meatus underneath penis(parent)
Developmental hereditary disorder(parent)
Quick Facts
- SNOMED CT
- 81771002
- UMLS CUI
- C2936904
- Fully Specified Name
- Opitz-Frias 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.