Overview
Rothmund Thomson syndrome type 1 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.
Juvenile cataract
Very frequent (80-99%)HP:0001118
Poikiloderma
Very frequent (80-99%)HP:0001029
Agenesis of eyebrows
Frequent (30-79%)HP:0002223
Aplasia of eyelashes
Frequent (30-79%)HP:0000561
Birthmark
Frequent (30-79%)HP:0000957
Congenital cataracts, bilateral
Frequent (30-79%)HP:0000519
Cryptorchidism
Frequent (30-79%)HP:0000028
Decreased body height
Frequent (30-79%)HP:0004322
Dental problems
Frequent (30-79%)HP:0000164
Epidermal hyperkeratosis
Frequent (30-79%)HP:0000962
Hypopigmentation of the skin
Frequent (30-79%)HP:0001010
Hypotrichosis
Frequent (30-79%)HP:0008070
Low birth weight
Frequent (30-79%)HP:0001518
Melanoderma
Frequent (30-79%)HP:0000953
Multiple skeletal anomalies
Frequent (30-79%)HP:0005775
Nail dysplasia
Frequent (30-79%)HP:0002164
Poor growth
Frequent (30-79%)HP:0001510
Ruddy face
Frequent (30-79%)HP:0001041
Skin degeneration
Frequent (30-79%)HP:0004334
Spider veins
Frequent (30-79%)HP:0001009
Abnormality of bone trabeculation
Occasional (5-29%)HP:0100671
Abnormality of immune system physiology
Occasional (5-29%)HP:0010978
Bone fracture
Occasional (5-29%)HP:0020110
Childhood attention deficit/hyperactivity disorder
Occasional (5-29%)HP:0007018
Cognitive delay
Occasional (5-29%)HP:0001263
Decreased activity of gonads
Occasional (5-29%)HP:0000135
Decreased function of male gonad
Occasional (5-29%)HP:0000026
Decreased width of tooth
Occasional (5-29%)HP:0000691
Defective tooth enamel
Occasional (5-29%)HP:0000682
Delayed eruption of teeth
Occasional (5-29%)HP:0000684
Quick Facts
- SNOMED CT
- 1003922004
- UMLS CUI
- C5231433
- Fully Specified Name
- Rothmund Thomson syndrome type 1 (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.