Rothmund-Thomson syndrome type 1

General Information (adopted from Orphanet):

Synonyms, Signs: RTS1
Poikiloderma of Rothmund-Thomson type 1
Number of Symptoms 16
OrphanetNr: 221008
OMIM Id:
ICD-10: Q82.8
UMLs:
MeSH:
MedDRA:
Snomed:

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: Rothmund-Thomson syndrome
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0000606) Abnormality of the periorbital region Very frequent [Orphanet] 96 / 7739
2
 (HPO:0000164) Abnormality of the teeth Very frequent [Orphanet] 291 / 7739
3
 (HPO:0000534) Abnormality of the eyebrow Very frequent [Orphanet] 39 / 7739
4
 (HPO:0000518) Cataract Very frequent [Orphanet] 454 / 7739
5
 (HPO:0000924) Abnormality of the skeletal system Very frequent [Orphanet] 114 / 7739
6
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
7
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
8
 (HPO:0000962) Hyperkeratosis Very frequent [Orphanet] 216 / 7739
9
 (HPO:0001597) Abnormality of the nail Very frequent [Orphanet] 115 / 7739
10
 (HPO:0001029) Poikiloderma Very frequent [Orphanet] 23 / 7739
11
 (HPO:0001053) Hypopigmented skin patches Very frequent [Orphanet] 80 / 7739
12
 (HPO:0008065) Aplasia/Hypoplasia of the skin Very frequent [Orphanet] 81 / 7739
13
 (HPO:0010783) Erythema Very frequent [Orphanet] 138 / 7739
14
 (HPO:0007400) Irregular hyperpigmentation Very frequent [Orphanet] 72 / 7739
15
 (HPO:0007495) Prematurely aged appearance Very frequent [Orphanet] 44 / 7739
16
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: