Overview
Dermochondrocorneal dystrophy 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.
Abnormal hands
Very frequent (80-99%)HP:0001155
Abnormality of the feet
Very frequent (80-99%)HP:0001760
Corneal dystrophy
Very frequent (80-99%)HP:0001131
Decreased visual acuity
Very frequent (80-99%)HP:0007663
Disproportionately large hands
Very frequent (80-99%)HP:0001176
Skeletal anomalies
Very frequent (80-99%)HP:0000924
Xanthomatosis
Very frequent (80-99%)HP:0000991
Anterior cortical cataract
HP:0007795
Growth of abnormal tissue on or under the skin
HP:0200036
Gum enlargement
HP:0000212
Irregular ankle bone maturation
HP:0008134
Joint subluxation
HP:0032153
Subepithelial corneal opacities
HP:0008039
Related Conditions
Hereditary corneal dystrophy(parent)
Congenital anomaly of skin(parent)
Congenital anomaly of skeletal bone(parent)
Congenital osteodystrophy(parent)
Hereditary disorder of musculoskeletal system(parent)
Hereditary disorder of the integument(parent)
Recessive hereditary disorder (autosomal)(parent)
Nodule of skin(parent)
Developmental hereditary disorder(parent)
Congenital corneal dystrophy(parent)
Quick Facts
- SNOMED CT
- 254150007
- UMLS CUI
- C0432288
- Fully Specified Name
- Francois syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 13
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.