Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal best corrected visual acuity test
Very frequent (80-99%)HP:0030534
Abnormality of ocular abduction
Very frequent (80-99%)HP:0011347
Absent Bell phenomenon
Very frequent (80-99%)HP:6000709
Congenital ophthalmoplegia
Very frequent (80-99%)HP:0001491
Eye drop
Very frequent (80-99%)HP:0000508
Impaired ocular adduction
Very frequent (80-99%)HP:0000542
Levator palpebrae superioris atrophy
Very frequent (80-99%)HP:0012241
Limited vertical extraocular movement
Very frequent (80-99%)HP:0025721
Outward facing eye ball
Very frequent (80-99%)HP:0000577
Sluggish pupillary reaction
Very frequent (80-99%)HP:0030211
Squint
Very frequent (80-99%)HP:0000486
Abnormal ERG
Frequent (30-79%)HP:0000512
Abnormal involuntary eye movements
Frequent (30-79%)HP:0012547
Abnormal pupil shape
Frequent (30-79%)HP:0025309
Abnormal visual field test
Frequent (30-79%)HP:0030588
Abnormality of refraction
Frequent (30-79%)HP:0000539
Compensatory head tilt/chin elevation
Frequent (30-79%)HP:0001477
Miosis
Frequent (30-79%)HP:0000616
Nonprogressive restrictive external ophthalmoplegia
Frequent (30-79%)HP:0007831
Wandering eye
Frequent (30-79%)HP:0000646
Absent fingers
Occasional (5-29%)HP:0009380
Aplasia of the olfactory bulb
Occasional (5-29%)HP:0032466
Cataract
Occasional (5-29%)HP:0000518
Congenital neurosensory deafness
Occasional (5-29%)HP:0008527
Delayed gross motor development
Occasional (5-29%)HP:0002194
Esotropia
Occasional (5-29%)HP:0000565
Hypoplastic optic nerves
Occasional (5-29%)HP:0000609
Low gonadotropins (secondary hypogonadism)
Occasional (5-29%)HP:0000044
Mental deficiency
Occasional (5-29%)HP:0001249
More grooves in brain
Occasional (5-29%)HP:0002126
Related Conditions
Vertical retraction syndrome(child)
Congenital fibrosis of inferior rectus muscle(child)
Extraocular muscle restriction(parent)
Congenital anomaly of skeletal muscle(parent)
External ophthalmoplegia(parent)
Cranial nerve disorder(parent)
Genetic disease(parent)
Congenital strabismus(parent)
Congenital ptosis(parent)
Lesion of skeletal muscle(parent)
Lesion of face(parent)
Nerve palsy(parent)
Quick Facts
- SNOMED CT
- 400946004
- UMLS CUI
- C1302995
- Fully Specified Name
- Congenital fibrosis 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.