Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Cachexia
Very frequent (80-99%)HP:0004326
Decreased size of cranium
Very frequent (80-99%)HP:0000252
Mental and motor retardation
Very frequent (80-99%)HP:0001263
Neurogenic muscle atrophy, especially in the lower limbs
Very frequent (80-99%)HP:0003202
Poor school performance
Very frequent (80-99%)HP:0001249
Short stature, severe
Very frequent (80-99%)HP:0003510
Capuchin ears
Frequent (30-79%)HP:0000378
Decreased body height
Frequent (30-79%)HP:0004322
Decreased height of philtrum
Frequent (30-79%)HP:0000322
Decreased testicular size
Frequent (30-79%)HP:0008734
Decreased transverse dimension of face
Frequent (30-79%)HP:0000275
Enlarged mandible
Frequent (30-79%)HP:0000303
Growth failure
Frequent (30-79%)HP:0001510
Hair loss
Frequent (30-79%)HP:0001596
Hypospadias
Frequent (30-79%)HP:0000047
Involuntary muscle stiffness, contraction, or spasm
Frequent (30-79%)HP:0001257
Large nose
Frequent (30-79%)HP:0000448
Large pinnae
Frequent (30-79%)HP:0000400
Mongoloid slant
Frequent (30-79%)HP:0000582
Palpebronasal fold
Frequent (30-79%)HP:0000286
Rib anomalies
Frequent (30-79%)HP:0000772
Round ear
Frequent (30-79%)HP:0100830
Short and narrow face
Frequent (30-79%)HP:0000274
Sprengel deformity
Frequent (30-79%)HP:0000912
Thin eyebrow
Frequent (30-79%)HP:0045074
Wide skull shape
Frequent (30-79%)HP:0000248
Zygomatic flattening
Frequent (30-79%)HP:0000272
Abnormal hairshaft morphology
Occasional (5-29%)HP:0003328
Abnormality of the thumbs
Occasional (5-29%)HP:0001172
Abnormally small eyeball
Occasional (5-29%)HP:0000568
Quick Facts
- SNOMED CT
- 699669001
- UMLS CUI
- C0796135
- Fully Specified Name
- Renpenning 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.