Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Cognitive delay
Always present (100%)HP:0001263
Cutis marmorata
Always present (100%)HP:0000965
Decreased size of cranium
Always present (100%)HP:0000252
Growth delay as children
Always present (100%)HP:0008897
High arched palate
Always present (100%)HP:0000218
Hyperpigmented macules
Always present (100%)HP:0001034
Hypoplastic cochlea
Always present (100%)HP:0008586
Intrauterine growth retardation, IUGR
Always present (100%)HP:0001511
Large mouth
Always present (100%)HP:0000154
Narrow forehead
Always present (100%)HP:0000341
Optic disc coloboma
Always present (100%)HP:0000588
Palpebronasal fold
Always present (100%)HP:0000286
partial or complete syndactyly 2nd-3rd toes
Always present (100%)HP:0004691
Permanent curving of the pinkie finger
Always present (100%)HP:0004209
Short and narrow face
Always present (100%)HP:0000274
Simple, cup-shaped ears
Always present (100%)HP:0000378
Sloping forehead
Always present (100%)HP:0000340
VSD
Always present (100%)HP:0001629
Tetrology of fallot
Occasional (5-29%)HP:0001636
Deafness
HP:0000365
Generalised decreased muscle tone
HP:0001290
Low intelligence
HP:0001249
Muscular hypotonia
HP:0001252
Single flexion crease
HP:0000954
Quick Facts
- SNOMED CT
- 702829000
- UMLS CUI
- C3150658
- Fully Specified Name
- Warsaw breakage syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 24
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.