Overview
Temple Baraitser 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.
Attachment of thumb close to wrist
Always present (100%)HP:0009623
Central hypotonia
Always present (100%)HP:0001252
Downturned corners of mouth
Always present (100%)HP:0002714
Thumb-in-palm pattern
Always present (100%)HP:0001181
Columella, short
Very frequent (80-99%)HP:0002000
Abnormal brain morphology
Frequent (30-79%)HP:0012443
Absent thumbnail
Frequent (30-79%)HP:0012554
Aplastic/hypoplastic toenails
Frequent (30-79%)HP:0010624
Atria septal defect
Frequent (30-79%)HP:0001631
Bilateral ptosis
Frequent (30-79%)HP:0001488
Broad flat nasal bridge
Frequent (30-79%)HP:0000431
Broad thumbs
Frequent (30-79%)HP:0011304
Decreased body height
Frequent (30-79%)HP:0004322
Decreased size of cranium
Frequent (30-79%)HP:0000252
Delayed eruption of teeth
Frequent (30-79%)HP:0000684
Depressed nasal root/bridge
Frequent (30-79%)HP:0005280
Dyschezia
Frequent (30-79%)HP:0002019
Electroencephalogram abnormal
Frequent (30-79%)HP:0002353
Epilepsy
Frequent (30-79%)HP:0001250
Generalised decreased muscle tone
Frequent (30-79%)HP:0001290
Global developmental delay, severe
Frequent (30-79%)HP:0011344
Increased distance between eyes
Frequent (30-79%)HP:0000316
Increased length of eyelashes
Frequent (30-79%)HP:0000527
Increased length of philtrum
Frequent (30-79%)HP:0000343
Increased nasal width
Frequent (30-79%)HP:0000445
Large ears
Frequent (30-79%)HP:0000400
Large halluces
Frequent (30-79%)HP:0001847
Large mouth
Frequent (30-79%)HP:0000154
Mental retardation, severe
Frequent (30-79%)HP:0010864
Myopathic facial appearance
Frequent (30-79%)HP:0002058
Related Conditions
Autosomal dominant hereditary disorder(parent)
Congenital anomaly of nail(parent)
Multiple malformation syndrome with limb defect as major feature(parent)
Hypoplastic thumb(parent)
Hereditary disorder of the integument(parent)
Genetic disorder of nail(parent)
Developmental hereditary disorder(parent)
Genetic intellectual disability(parent)
Congenital hypoplasia of toe(parent)
Quick Facts
- SNOMED CT
- 725140007
- UMLS CUI
- C2678486
- Fully Specified Name
- Temple Baraitser 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.