Overview
Stickler syndrome non-ocular type 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.
Arthritic pain
Very frequent (80-99%)HP:0002829
Cleft of palate
Very frequent (80-99%)HP:0000175
Increased length of philtrum
Very frequent (80-99%)HP:0000343
Sensorineural deafness
Very frequent (80-99%)HP:0000407
Zygomatic flattening
Very frequent (80-99%)HP:0000272
Decreased projection of lower jaw
Frequent (30-79%)HP:0000347
Osteoarthritis
Frequent (30-79%)HP:0002758
Retraction of the tongue
Frequent (30-79%)HP:0000162
Abnormal metacarpal morphology
Occasional (5-29%)HP:0005916
Formation of new noncancerous bone on top of existing bone
Occasional (5-29%)HP:0100777
Pectus carinatum
Occasional (5-29%)HP:0000768
Pectus excavatum
Occasional (5-29%)HP:0000767
Related Conditions
Autosomal dominant hereditary disorder(parent)
Hearing loss associated with syndrome(parent)
Spondyloepiphyseal dysplasia congenita(parent)
Multiple malformation syndrome with facial defects as major feature(parent)
Congenital sensorineural hearing loss(parent)
Hereditary disorder of musculoskeletal system(parent)
Developmental hereditary disorder(parent)
Hereditary hearing loss(parent)
Quick Facts
- SNOMED CT
- 783097004
- UMLS CUI
- C1861481
- Fully Specified Name
- Stickler syndrome type 3 (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 12
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.