Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal metaphysis morphology
Very frequent (80-99%)HP:0000944
Abnormal shape of shaft of long bone
Very frequent (80-99%)HP:0000940
Abnormal toenail morphology
Very frequent (80-99%)HP:0008388
Abnormality of the fingernails
Very frequent (80-99%)HP:0001231
Brachydactyly
Very frequent (80-99%)HP:0001156
Decreased hair growth
Very frequent (80-99%)HP:0008070
Distal phalangeal hypoplasia
Very frequent (80-99%)HP:0009882
Dolichocephaly
Very frequent (80-99%)HP:0000268
Frontal protuberance
Very frequent (80-99%)HP:0002007
Low chest circumference
Very frequent (80-99%)HP:0000774
Osteoporosis
Very frequent (80-99%)HP:0000939
Palpebronasal fold
Very frequent (80-99%)HP:0000286
Prominent posterior skull
Very frequent (80-99%)HP:0000269
Rhizomelic limb shortening
Very frequent (80-99%)HP:0008905
Tooth abnormalities
Very frequent (80-99%)HP:0000164
Tooth hypotrophy
Very frequent (80-99%)HP:0000691
Craniosyostosis
Frequent (30-79%)HP:0001363
Eclabium of lower lip
Frequent (30-79%)HP:0000232
Ligamentous laxity
Frequent (30-79%)HP:0001382
Missing between one and six teeth
Frequent (30-79%)HP:0000668
Nostrils anteverted
Frequent (30-79%)HP:0000463
Ocular hypotelorism
Frequent (30-79%)HP:0000601
Partial syndactyly
Frequent (30-79%)HP:0006101
Pectus excavatum
Frequent (30-79%)HP:0000767
Defective tooth enamel
Occasional (5-29%)HP:0000682
High-grade hypermetropia
Occasional (5-29%)HP:0008499
Involuntary, rapid, rhythmic eye movements
Occasional (5-29%)HP:0000639
Near sighted
Occasional (5-29%)HP:0000545
Permanent curving of the pinkie finger
Occasional (5-29%)HP:0004209
Taurodont
Occasional (5-29%)HP:0000679
Quick Facts
- SNOMED CT
- 254093009
- UMLS CUI
- C4551571
- Fully Specified Name
- Cranioectodermal 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.