Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Broad flat nasal bridge
Very frequent (80-99%)HP:0000431
Deformity of the skull
Very frequent (80-99%)HP:0001363
Frontal protuberance
Very frequent (80-99%)HP:0002007
Increased distance between eyes
Very frequent (80-99%)HP:0000316
Midline defect of the nose
Very frequent (80-99%)HP:0004122
Retruded nasal dorsum
Very frequent (80-99%)HP:0000457
Ridged fingernails
Very frequent (80-99%)HP:0008402
Short and broad skull
Very frequent (80-99%)HP:0000248
Abnormal clavicles
Frequent (30-79%)HP:0000889
Abnormality of hair volume
Frequent (30-79%)HP:0010719
Afro-textured hair
Frequent (30-79%)HP:0002224
Bipartite clavicle
Frequent (30-79%)HP:0006585
Brachydactyly
Frequent (30-79%)HP:0001156
Broad bone of big toe
Frequent (30-79%)HP:0010059
Central hypotonia
Frequent (30-79%)HP:0001252
Cobb angle greater than ten degrees
Frequent (30-79%)HP:0002650
Decreased size of cranium
Frequent (30-79%)HP:0000252
Down-slanting palpebral fissure
Frequent (30-79%)HP:0000494
Hairline point
Frequent (30-79%)HP:0000349
High arched palate
Frequent (30-79%)HP:0000218
Joint ligamentous laxity
Frequent (30-79%)HP:0001382
Longitudinal ridging
Frequent (30-79%)HP:0001807
Low posterior hair line
Frequent (30-79%)HP:0002162
Mental-retardation
Frequent (30-79%)HP:0001249
Oral cleft
Frequent (30-79%)HP:0000202
Partial syndactyly
Frequent (30-79%)HP:0006101
Permanent curving of the pinkie finger
Frequent (30-79%)HP:0004209
Polydactyly of the hand
Frequent (30-79%)HP:0001161
Positional plagiocephaly
Frequent (30-79%)HP:0001357
Proximal interphalangeal finger joint contractures
Frequent (30-79%)HP:0100490
Related Conditions
Quick Facts
- SNOMED CT
- 715421009
- UMLS CUI
- C0220767
- Fully Specified Name
- Craniofrontonasal dysplasia (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.