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Radioulnar synostosis with developmental delay and hypotonia syndrome
disorderSNOMED 721883006CUI C2931776
Overview
Radioulnar synostosis with developmental delay and hypotonia 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.
Abnormal dermatoglyphics
Very frequent (80-99%)HP:0007477
Abnormal palate morphology
Very frequent (80-99%)HP:0000174
Abnormal vocalization
Very frequent (80-99%)HP:0002167
Fused forearm bones
Very frequent (80-99%)HP:0002974
Gait disturbance
Very frequent (80-99%)HP:0001288
Hearing abnormality
Very frequent (80-99%)HP:0000364
Large head
Very frequent (80-99%)HP:0000256
Mental and motor retardation
Very frequent (80-99%)HP:0001263
Muscular abnormality
Very frequent (80-99%)HP:0003011
Nasal hypertrophy
Very frequent (80-99%)HP:0000448
Pectus excavatum
Very frequent (80-99%)HP:0000767
Peripheral hypotonia
Very frequent (80-99%)HP:0001252
Prominent nasal root
Very frequent (80-99%)HP:0000426
Protruding ear
Very frequent (80-99%)HP:0000411
Squint
Very frequent (80-99%)HP:0000486
Thin face
Very frequent (80-99%)HP:0000275
Turridolichocephaly
Very frequent (80-99%)HP:0000268
Dental anomalies
Frequent (30-79%)HP:0000164
Multicystic kidney dysplasia
Frequent (30-79%)HP:0000003
Rotting teeth
Frequent (30-79%)HP:0000670
Quick Facts
- SNOMED CT
- 721883006
- UMLS CUI
- C2931776
- Fully Specified Name
- Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 20
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.