Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormally small eyeball
Always present (100%)HP:0000568
Concave bridge of nose
Always present (100%)HP:0005280
Decreased projection of mandible
Always present (100%)HP:0000347
Disproportionately small hands
Always present (100%)HP:0200055
High arched palate
Always present (100%)HP:0000218
Increased distance between eyes
Always present (100%)HP:0000316
Narrow eyelid opening
Always present (100%)HP:0045025
Palpebronasal fold
Always present (100%)HP:0000286
Prominent antihelix
Always present (100%)HP:0000395
Thinning scalp hair
Always present (100%)HP:0002209
Cheekbone rash
Very frequent (80-99%)HP:0025300
Frontal protuberance
Very frequent (80-99%)HP:0002007
Poikiloderma
Very frequent (80-99%)HP:0001029
Skin rash
Very frequent (80-99%)HP:0000988
Abnormal blistering of the skin
Frequent (30-79%)HP:0008066
Agenesis of eyebrows
Frequent (30-79%)HP:0002223
Birth weight less than 10th percentile
Frequent (30-79%)HP:0001518
Birthmark
Frequent (30-79%)HP:0000957
Bone cell cancer
Frequent (30-79%)HP:0002669
Decreased body height
Frequent (30-79%)HP:0004322
Decreased bone mineral density Z score
Frequent (30-79%)HP:0004349
Dental problems
Frequent (30-79%)HP:0000164
Epidermal hyperkeratosis
Frequent (30-79%)HP:0000962
Failure of development of eyelashes
Frequent (30-79%)HP:0000561
Infertility
Frequent (30-79%)HP:0000789
Low intelligence
Frequent (30-79%)HP:0001249
Overfolded helix
Frequent (30-79%)HP:0000396
Palmar hyperkeratosis
Frequent (30-79%)HP:0010765
Plantar hyperkeratosis
Frequent (30-79%)HP:0007556
Poorly folded helices
Frequent (30-79%)HP:0008577
Related Conditions
Rothmund Thomson syndrome type 1(child)
Rothmund Thomson syndrome type 2(child)
Genodermatosis(parent)
Multiple malformation syndrome with senile-like appearance(parent)
Hereditary disorder of the integument(parent)
Hereditary neoplastic syndrome(parent)
Poikiloderma(parent)
Developmental hereditary disorder(parent)
Quick Facts
- SNOMED CT
- 69093006
- UMLS CUI
- C0032339
- Fully Specified Name
- Rothmund-Thomson 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.