Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Anterior bulging of the globe of eye
Always present (100%)HP:0000520
Blue irides
Always present (100%)HP:0000635
Broad neck
Always present (100%)HP:0000475
Bulbous nose
Always present (100%)HP:0000414
Curvature of little finger
Always present (100%)HP:0004209
Degeneration of cerebrum
Always present (100%)HP:0002059
Feeding difficulties
Always present (100%)HP:0011968
Few cafe-au-lait spots
Always present (100%)HP:0007429
Hyperopia
Always present (100%)HP:0000540
Increased height of lower lip vermilion
Always present (100%)HP:0000179
Large spleen
Always present (100%)HP:0001744
Mental retardation, severe
Always present (100%)HP:0010864
Severe psychomotor retardation
Always present (100%)HP:0011344
Sparse eyebrow
Always present (100%)HP:0045075
Wide thorax
Always present (100%)HP:0100625
Abnormal eye
Very frequent (80-99%)HP:0000478
Abnormal vocalization
Very frequent (80-99%)HP:0002167
Abnormality of cardiovascular system morphology
Very frequent (80-99%)HP:0030680
Abnormality of the eyelashes
Very frequent (80-99%)HP:0000499
Abnormality of vision
Very frequent (80-99%)HP:0000504
Agenesis of eyebrows
Very frequent (80-99%)HP:0002223
Atria septal defect
Very frequent (80-99%)HP:0001631
Decreased body height
Very frequent (80-99%)HP:0004322
Excessive wrinkled skin
Very frequent (80-99%)HP:0007392
Failure to thrive in first year of life
Very frequent (80-99%)HP:0001531
Feeding difficulties in infancy
Very frequent (80-99%)HP:0008872
Fine hair
Very frequent (80-99%)HP:0002213
Fractured hair
Very frequent (80-99%)HP:0002299
Hyperplasia of cheeks
Very frequent (80-99%)HP:0000293
Hypotrophic eyebrow
Very frequent (80-99%)HP:0100840
Related Conditions
Quick Facts
- SNOMED CT
- 403770008
- UMLS CUI
- C1275081
- Fully Specified Name
- Cardio-facio-cutaneous 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.