Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormality of the wrist
Very frequent (80-99%)HP:0003019
Blepharophimosis
Very frequent (80-99%)HP:0000581
Down-slanting palpebral fissure
Very frequent (80-99%)HP:0000494
Flat facial shape
Very frequent (80-99%)HP:0012368
Flat nasal bridge
Very frequent (80-99%)HP:0005280
Hypoplasia of the nose
Very frequent (80-99%)HP:0009924
Hypotrophic maxilla
Very frequent (80-99%)HP:0000327
Increased distance between eyes
Very frequent (80-99%)HP:0000316
Lacrimal duct atresia
Very frequent (80-99%)HP:0000564
Narrow mouth
Very frequent (80-99%)HP:0000160
Nasal hypoplasia
Very frequent (80-99%)HP:0003196
Retruded nasal dorsum
Very frequent (80-99%)HP:0000457
Sensorineural deafness
Very frequent (80-99%)HP:0000407
Thin face
Very frequent (80-99%)HP:0000275
Ulnar deviation of the wrist
Very frequent (80-99%)HP:0003049
Ulnar Drift
Very frequent (80-99%)HP:0009465
Proximal interphalangeal finger joint contractures
Frequent (30-79%)HP:0100490
Hypotrophic malar bone
HP:0000272
Increased intercanthal distance
HP:0000506
Thin nostrils
HP:0009933
Ulnar deviation of the hands
HP:0009487
Related Conditions
Quick Facts
- SNOMED CT
- 702362004
- UMLS CUI
- C1852510
- Fully Specified Name
- Craniofacial deafness hand 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.