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Cleft palate, large ears, small head syndrome
disorderSNOMED 763130006CUI C1867023
Overview
Cleft palate, large ears, small head syndrome 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.
Cleft of palate
Very frequent (80-99%)HP:0000175
Decreased body height
Very frequent (80-99%)HP:0004322
Decreased size of cranium
Very frequent (80-99%)HP:0000252
Delayed skeletal development
Very frequent (80-99%)HP:0002750
Large pinnae
Very frequent (80-99%)HP:0000400
Aplasia/Hypoplasia of the nipples
Frequent (30-79%)HP:0006709
Decreased projection of lower jaw
Frequent (30-79%)HP:0000347
Distal phalangeal hypoplasia
Frequent (30-79%)HP:0009882
Elf-like facial features
Frequent (30-79%)HP:0004428
Eye drop
Frequent (30-79%)HP:0000508
Gingival overgrowth
Frequent (30-79%)HP:0000212
Hypoplastic toenails
Frequent (30-79%)HP:0001800
Hypospadias
Frequent (30-79%)HP:0000047
Mental and motor retardation
Frequent (30-79%)HP:0001263
Muscle wasting
Frequent (30-79%)HP:0003202
Pectus excavatum
Frequent (30-79%)HP:0000767
Peripheral hypotonia
Frequent (30-79%)HP:0001252
Protruding ear
Frequent (30-79%)HP:0000411
Ulnar Drift
Frequent (30-79%)HP:0009465
Bilateral cystic dysplasia
HP:0000800
Dermatopathy
HP:0000951
Proximal tubular acidosis
HP:0002049
Tapering fingers
HP:0001182
Ulnar deviation of middle fingers
HP:0009463
Quick Facts
- SNOMED CT
- 763130006
- UMLS CUI
- C1867023
- Fully Specified Name
- Cleft palate, large ears, small head 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.