Overview
Hall Berg Rudolph 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.
Agenesis of eyebrows
Always present (100%)HP:0002223
Aplasia of eyelashes
Always present (100%)HP:0000561
Mental deficiency
Always present (100%)HP:0001249
Bird-like facial appearance
Very frequent (80-99%)HP:0000320
Cranium bifidum occultum
Very frequent (80-99%)HP:0004423
Decreased body height
Very frequent (80-99%)HP:0004322
Decreased size of cranium
Very frequent (80-99%)HP:0000252
Epidural arachnoid cysts of the spinal canal
Very frequent (80-99%)HP:0009745
Glaucoma
Very frequent (80-99%)HP:0000501
Hair loss
Very frequent (80-99%)HP:0001596
Hooked nose
Very frequent (80-99%)HP:0000444
Nasal tip, narrow
Very frequent (80-99%)HP:0011832
Poor weight gain
Very frequent (80-99%)HP:0001508
Progressive spastic quadriparesis
Very frequent (80-99%)HP:0002478
Sparse eyebrow
Very frequent (80-99%)HP:0045075
Stiff joint
Very frequent (80-99%)HP:0001387
Thin skin
Very frequent (80-99%)HP:0000963
Thin, sparse hair
Very frequent (80-99%)HP:0008070
Very poor growth
Very frequent (80-99%)HP:0001510
Weight less than 3rd percentile
Very frequent (80-99%)HP:0004325
Related Conditions
Quadriplegia(parent)
Congenital absence of cilia of eyelid(parent)
Multiple malformation syndrome with facial defects as major feature(parent)
Recessive hereditary disorder (autosomal)(parent)
Congenital glaucoma(parent)
Absent eyebrow(parent)
Hereditary disorder of the visual system(parent)
Premature ageing syndrome(parent)
Disorder of hair growth(parent)
Aplasia of skin(parent)
Developmental hereditary disorder(parent)
Congenital microcephalus(parent)
Congenital anomaly of central nervous system(parent)
Inherited metabolic disorder of nervous system(parent)
Genetic intellectual disability(parent)
Quick Facts
- SNOMED CT
- 733086003
- UMLS CUI
- C0796125
- Fully Specified Name
- Pseudoprogeria 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.