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Cleft palate with short stature and vertebral anomaly syndrome
disorderSNOMED 719466009CUI C4304704
Overview
Cleft palate with short stature and vertebral anomaly 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
Frequent (30-79%)HP:0000175
Decreased body height
Frequent (30-79%)HP:0004322
Decreased volume of upper lip
Frequent (30-79%)HP:0000219
Hypoplastic mandible condyle
Frequent (30-79%)HP:0000347
Multiple vertebral anomalies
Frequent (30-79%)HP:0003468
Nasal hypoplasia
Frequent (30-79%)HP:0003196
Nonprogressive mental retardation
Frequent (30-79%)HP:0001249
Nostrils anteverted
Frequent (30-79%)HP:0000463
Palpebronasal fold
Frequent (30-79%)HP:0000286
Posteriorly angulated ears
Frequent (30-79%)HP:0000358
Short neck
Frequent (30-79%)HP:0000470
Related Conditions
Autosomal dominant hereditary disorder(parent)
Multiple malformation syndrome with facial defects as major feature(parent)
Congenital anomaly of spine(parent)
Cleft palate(parent)
Small stature(parent)
Hereditary disorder of musculoskeletal system(parent)
Congenital anomaly of musculoskeletal system(parent)
Disorder of vertebral column(parent)
Developmental hereditary disorder(parent)
Genetic intellectual disability(parent)
Abnormality of axial skeleton morphology(parent)
Quick Facts
- SNOMED CT
- 719466009
- UMLS CUI
- C4304704
- Fully Specified Name
- Cleft palate with short stature and vertebral anomaly syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 11
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.