ORPHA:2909
Rothmund-Thomson syndrome
Synonyms: Poikiloderma of Rothmund-Thomson · RTS
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare syndrome characterized by facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and cancer susceptibility.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Rothmund-Thomson syndrome | Poikiloderma of Rothmund-Thomson · RTS |
| fr | Syndrome de Rothmund-Thomson | Poïkilodermie de Rothmund-Thomson |
| de | Rothmund-Thomson-Syndrom | Poikilodermie Rothmund-Thomson |
| es | Síndrome de Rothmund-Thomson | |
| it | Sindrome di Rothmund-Thomson | Poichilodermia di Rothmund-Thomson |
| nl | Syndroom van Rothmund-Thomson | Poikilodermie van Rothmund-Thomson · RTS |
| pt | Síndrome Rothmund-Thomson | Poiquilodermia de Rothmund-Thomson · RTS |
| pl | Zespół Rothmunda i Thomsona | Poikilodermia Rothmunda i Thomsona · RTS |
| cs | Rothmundův-Thomsonův syndrom | Rothmundova-Thomsonova poikilodermie · RTS · Rothmund-Thomsonův syndrom · Rothmund-Thomsonova poikilodermie |
| uk | Синдром Ротмунда-Томсона | Пойкилодермія Ротмунда-Томсона · RTS |
| zh | Rothmund-Thomson 综合征 | Rothmund-Thomson皮肤异色病 |
| tr | Rothmund-Thomson sendromu | RTS · Rothmund-Thomson poikiloderması |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 268400 | BTNT | validated | |
| OMIM | 615789 | BTNT | validated | |
| OMIM | 618625 | BTNT | validated | |
| OMIM | 620819 | BTNT | validated | |
| ICD-10 | Q82.8 | NTBT | index | validated |
| ICD-11 | LD2B | NTBT | index | validated |
| MONDO | 0010002 | E | validated | |
| MeSH | D011038 | E | validated | |
| UMLS | C0032339 | E | validated | |
| GARD | 4392 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (6):
- ORPHA:98649Dentocutaneous disease with cataract
rare genetic diseases; rare ophthalmic disorders - ORPHA:183490Genetic photodermatosis
rare genetic diseases - ORPHA:363245Genetic progeroid syndrome
rare genetic diseases - ORPHA:222628Hereditary poikiloderma
rare genetic diseases; rare skin diseases - ORPHA:139033Progeroid syndrome
rare developmental anomalies during embryogenesis - ORPHA:79390Rare photodermatosis
rare skin diseases
Codes that Orphanet moved or referred to this one:
- ORPHA:3333Connective tissue dysplasia, Spellacy type moved to · inactive
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Genes
0 direct · 4 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| ANAPC1 | ORPHA:221008Rothmund-Thomson syndrome type 1 | Disease-causing germline mutation(s) in | Assessed | HGNC:19988 | ENSG00000153107 | 608473 | 2q13 | anaphase promoting complex subunit 1 | 31303264[PMID] |
| CRIPT | ORPHA:715640Rothmund-Thomson syndrome type 3 | Disease-causing germline mutation(s) in | Assessed | HGNC:14312 | ENSG00000119878 | 604594 | 2p21 | CXXC repeat containing interactor of PDZ3 domain | 24389050[PMID] |
| DNA2 | ORPHA:715635Rothmund-Thomson syndrome type 4 | Disease-causing germline mutation(s) in | Assessed | HGNC:2939 | ENSG00000138346 | 601810 | 10q21.3 | DNA replication helicase/nuclease 2 | 37055165[PMID] |
| RECQL4 | ORPHA:221016Rothmund-Thomson syndrome type 2 | Disease-causing germline mutation(s) in | Assessed | HGNC:9949 | ENSG00000160957 | 603780 | 8q24.3 | RecQ like helicase 4 | 20503338[PMID]_20301415[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 500 cases | Worldwide | Case(s) | Validated | 20301415[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 20301415[PMID]_ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
56 annotations · validated 2020-06-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0025300 | Malar rash | |
| HP:0001029 | Poikiloderma | |
| HP:0000988 | Skin rash | |
| Frequent (79-30%) | ||
| HP:0008066 | Abnormal blistering of the skin | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0000924 | Abnormality of the skeletal system | |
| HP:0000789 | Infertility | |
| HP:0010765 | Palmar hyperkeratosis | |
| HP:0007556 | Plantar hyperkeratosis | |
| HP:0004349 | Reduced bone mineral density | |
| HP:0007588 | Reticular hyperpigmentation | |
| HP:0004322 | Short stature | |
| HP:0001518 | Small for gestational age | |
| HP:0045075 | Sparse eyebrow | |
| HP:0000653 | Sparse eyelashes | |
| HP:0008070 | Sparse hair | |
| Occasional (29-5%) | ||
| HP:0001597 | Abnormal nail morphology | |
| HP:0100671 | Abnormal trabecular bone morphology | |
| HP:0001871 | Abnormality of blood and blood-forming tissues | |
| HP:0000682 | Abnormality of dental enamel | |
| HP:0006498 | Aplasia/Hypoplasia of the patella | |
| HP:0006501 | Aplasia/Hypoplasia of the radius | |
| HP:0008065 | Aplasia/Hypoplasia of the skin | |
| HP:0003993 | Broad ulna | |
| HP:0000670 | Carious teeth | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0002014 | Diarrhea | |
| HP:0000282 | Facial edema | |
| HP:0001010 | Hypopigmentation of the skin | |
| HP:0000685 | Hypoplasia of teeth | |
| HP:0003022 | Hypoplasia of the ulna | |
| HP:0002659 | Increased susceptibility to fractures | |
| HP:0001118 | Juvenile cataract | |
| HP:0031367 | Metaphyseal striations | |
| HP:0000691 | Microdontia | |
| HP:0002164 | Nail dysplasia | |
| HP:0008069 | Neoplasm of the skin | |
| HP:0000938 | Osteopenia | |
| HP:0001592 | Selective tooth agenesis | |
| HP:0009778 | Short thumb | |
| HP:0001792 | Small nail | |
| HP:0011069 | Supernumerary tooth | |
| HP:0100585 | Telangiectasia of the skin | |
| HP:0002013 | Vomiting | |
| Very rare (<4-1%) | ||
| HP:0007418 | Alopecia totalis | |
| HP:0001903 | Anemia | |
| HP:0001915 | Aplastic anemia | |
| HP:0002671 | Basal cell carcinoma | |
| HP:0003761 | Calcinosis | |
| HP:0001875 | Decreased total neutrophil count | |
| HP:0001909 | Leukemia | |
| HP:0002861 | Melanoma | |
| HP:0002863 | Myelodysplasia | |
| HP:0011470 | Nasogastric tube feeding in infancy | |
| HP:0200044 | Porokeratosis | |
| HP:0002860 | Squamous cell carcinoma | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 20301415[PMID]_11471165[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2909
- This record as JSON: /data/d/2909.json