Rothmund-Thomson syndrome type 2
General Information (adopted from Orphanet):
| Synonyms, Signs: |
RTS2 Poikiloderma of Rothmund-Thomson type 2 |
| Number of Symptoms | 24 |
| OrphanetNr: | 221016 |
| OMIM Id: |
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| ICD-10: |
Q82.8 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Disease with potential neoplastic degeneration associated with ocular features
-Rare eye disease -Rare genetic disease Polymalformative genetic syndrome with increased risk of developing cancer -Rare genetic disease -Rare oncologic disease Rothmund-Thomson syndrome -Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease -Rare skin disease |
Symptom Information:
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(HPO:0000534) | Abnormality of the eyebrow | Very frequent [Orphanet] | 39 / 7739 | |||
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(HPO:0000366) | Abnormality of the nose | Very frequent [Orphanet] | 56 / 7739 | |||
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(HPO:0000606) | Abnormality of the periorbital region | Very frequent [Orphanet] | 96 / 7739 | |||
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(HPO:0000164) | Abnormality of the teeth | Frequent [Orphanet] | 291 / 7739 | |||
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(HPO:0002007) | Frontal bossing | Very frequent [Orphanet] | 366 / 7739 | |||
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(HPO:0000518) | Cataract | Very frequent [Orphanet] | 454 / 7739 | |||
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(HPO:0008373) | Puberty and gonadal disorders | Occasional [Orphanet] | 156 / 7739 | |||
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(HPO:0004349) | Reduced bone mineral density | Occasional [Orphanet] | 165 / 7739 | |||
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(HPO:0000924) | Abnormality of the skeletal system | Very frequent [Orphanet] | 114 / 7739 | |||
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(HPO:0002818) | Abnormality of the radius | Very frequent [Orphanet] | 96 / 7739 | |||
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(HPO:0009601) | Aplasia/Hypoplasia of the thumb | Very frequent [Orphanet] | 80 / 7739 | |||
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(HPO:0002024) | Malabsorption | Occasional [Orphanet] | 142 / 7739 | |||
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(HPO:0002017) | Nausea and vomiting | Occasional [Orphanet] | 134 / 7739 | |||
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(HPO:0004325) | Decreased body weight | Very frequent [Orphanet] | 492 / 7739 | |||
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(HPO:0001597) | Abnormality of the nail | Frequent [Orphanet] | 115 / 7739 | |||
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(HPO:0008069) | Neoplasm of the skin | Very frequent [Orphanet] | 84 / 7739 | |||
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(HPO:0007495) | Prematurely aged appearance | Very frequent [Orphanet] | 44 / 7739 | |||
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(HPO:0000962) | Hyperkeratosis | Frequent [Orphanet] | 216 / 7739 | |||
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(HPO:0001006) | Hypotrichosis | Very frequent [Orphanet] | 219 / 7739 | |||
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(HPO:0001029) | Poikiloderma | Very frequent [Orphanet] | 23 / 7739 | |||
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(HPO:0001874) | Abnormality of neutrophils | Occasional [Orphanet] | 47 / 7739 | |||
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(HPO:0002863) | Myelodysplasia | Occasional [Orphanet] | 30 / 7739 | |||
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(HPO:0001903) | Anemia | Occasional [Orphanet] | 289 / 7739 | |||
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(HPO:0100242) | Sarcoma | Very frequent [Orphanet] | 27 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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