Overview
Steinfeld 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.
Decreased size of cranium
Very frequent (80-99%)HP:0000252
Ear anomalies
Very frequent (80-99%)HP:0000356
External auditory meatal atresia
Very frequent (80-99%)HP:0000413
Missing nose
Very frequent (80-99%)HP:0009927
Single brain ventricle
Very frequent (80-99%)HP:0001360
Abnormal spinal segmentation
Frequent (30-79%)HP:0003422
Aplastic/hypoplastic thumbs
Frequent (30-79%)HP:0009601
Cleft lip, cleft palate
Frequent (30-79%)HP:0000202
Radial ray hypoplasia
Frequent (30-79%)HP:0002984
Abnormal humerus morphology
Occasional (5-29%)HP:0031095
Abnormal localization of kidney
Occasional (5-29%)HP:0100542
Abnormality of neuronal migration
Occasional (5-29%)HP:0002269
Cyclopia
Occasional (5-29%)HP:0009914
Deafness
Occasional (5-29%)HP:0000365
Iris coloboma
Occasional (5-29%)HP:0000612
Midline cleft lip
Occasional (5-29%)HP:0000161
Missing ribs
Occasional (5-29%)HP:0000921
Ocular hypotelorism
Occasional (5-29%)HP:0000601
Omphalocoele
Occasional (5-29%)HP:0001539
Overriding aortic valve
Occasional (5-29%)HP:0002623
Phocomelia
Occasional (5-29%)HP:0009829
Polydactyly of the foot
Occasional (5-29%)HP:0001829
Renal hypoplasia/aplasia
Occasional (5-29%)HP:0008678
Tetrology of fallot
Occasional (5-29%)HP:0001636
Abnormality of cardiovascular system morphology
HP:0030680
Abnormality of the vertebral column
HP:0000925
Absent gallbladder
HP:0011467
Cardiac anomaly
HP:0001627
Central cleft palate
HP:0009099
Dysplastic ears
HP:0000377
Quick Facts
- SNOMED CT
- 716233007
- UMLS CUI
- C1866649
- Fully Specified Name
- Steinfeld syndrome (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.