Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Attachment of thumb close to wrist
Very frequent (80-99%)HP:0009623
Brachydactyly
Very frequent (80-99%)HP:0001156
Cone-shaped epiphyses
Very frequent (80-99%)HP:0010579
Decreased size of cranium
Very frequent (80-99%)HP:0000252
Decreased volume of lip vermillion
Very frequent (80-99%)HP:0000233
Dental crowding
Very frequent (80-99%)HP:0000678
Disproportionately small hands
Very frequent (80-99%)HP:0200055
Down-slanting palpebral fissure
Very frequent (80-99%)HP:0000494
Eyelid ptosis
Very frequent (80-99%)HP:0000508
Fusion of wrist bones
Very frequent (80-99%)HP:0005048
Hooked nose
Very frequent (80-99%)HP:0000444
Hunched back
Very frequent (80-99%)HP:0002808
Mental-retardation
Very frequent (80-99%)HP:0001249
Narrow mouth
Very frequent (80-99%)HP:0000160
Psychomotor development deficiency
Very frequent (80-99%)HP:0001263
Shortened long bones of hand
Very frequent (80-99%)HP:0010049
Small nose
Very frequent (80-99%)HP:0003196
Abnormality of the elbow
Frequent (30-79%)HP:0009811
Abnormality of the vertebral epiphyses
Frequent (30-79%)HP:0100734
Cryptorchidism
Frequent (30-79%)HP:0000028
High forehead
Frequent (30-79%)HP:0000348
Intrauterine growth retardation, IUGR
Frequent (30-79%)HP:0001511
Low chest circumference
Frequent (30-79%)HP:0000774
Pectus carinatum
Frequent (30-79%)HP:0000768
Scoliosis
Frequent (30-79%)HP:0002650
Abnormal ERG
Occasional (5-29%)HP:0000512
Abnormal localization of kidney
Occasional (5-29%)HP:0100542
Abnormal visual evoked responses
Occasional (5-29%)HP:0000649
Blood in urine
Occasional (5-29%)HP:0000790
Delayed puberty
Occasional (5-29%)HP:0000823
Quick Facts
- SNOMED CT
- 3073006
- UMLS CUI
- C0265248
- Fully Specified Name
- Ruvalcaba 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.