Overview
Oro-facial digital syndrome type 9 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.
Brain degeneration
HP:0012444
Broad, upturned nose
HP:0000455
Camptodactyly
HP:0012385
Cleft of palate
HP:0000175
Decreased body height
HP:0004322
Decreased size of cranium
HP:0000252
Dental anomalies
HP:0000164
Extra oral frenum
HP:0000191
Hamartoma
HP:0010566
High arched palate
HP:0000218
Hole in the back of the eye
HP:0000480
Hypoplasia of the epiglottis
HP:0005349
Increased distance between eyes
HP:0000316
Increased intercanthal distance
HP:0000506
Midline cleft lip
HP:0000161
Milia
HP:0001056
Notched tip of nose
HP:0000456
Polydactyly of the hand
HP:0001161
Psychomotor development deficiency
HP:0001263
Recurrent aspiration pneumonia
HP:0002100
Short skankbone
HP:0005736
Squint
HP:0000486
Syndactyly of feet
HP:0001770
Related Conditions
Congenital anomaly of retina(parent)
Oral-facial-digital syndrome(parent)
Recessive hereditary disorder (autosomal)(parent)
Hereditary disorder of the integument(parent)
Hereditary disorder of the visual system(parent)
Digestive system hereditary disorder(parent)
Developmental hereditary disorder(parent)
Genetic intellectual disability(parent)
Quick Facts
- SNOMED CT
- 718680001
- UMLS CUI
- C0796102
- Fully Specified Name
- Oro-facial digital syndrome type 9 (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 23
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.