ORPHA:221016
Rothmund-Thomson syndrome type 2
Synonyms: RTS2 · Poikiloderma of Rothmund-Thomson type 2
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Rothmund-Thomson syndrome type 2 | RTS2 · Poikiloderma of Rothmund-Thomson type 2 |
| fr | Syndrome de Rothmund-Thomson type 2 | Poïkilodermie de Rothmund-Thomson type 2 |
| de | Rothmund-Thomson-Syndrom Typ 2 | Poikilodermie Rothmund-Thomson Typ 2 · RTS2 |
| es | Síndrome de Rothmund-Thomson tipo 2 | Poiquilodermia de Rothmund-Thomson tipo 2 · SRT2 |
| it | Sindrome di Rothmund-Thomson, tipo 2 | Poichilodermia di Rothmund-Thomson, tipo 2 · RTS2 |
| nl | Syndroom van Rothmund-Thomson type 2 | Poikilodermie van Rothmund-Thomson type 2 · RTS2 |
| pt | Síndrome de Rothmund-Thomson tipo 2 | |
| pl | Zespół Rothmunda i Thomsona typu 2 | Poikilodermia Rothmunda i Thomsona typu 2 · RTS2 |
| cs | Rothmundův-Thomsonův syndrom, typ 2 | Rothmundova-Thomsonova poikilodermie, typ 2 · RTS2 · Rothmund-Thomsonův syndrom, typ 2 · Rothmund-Thomsonova poikilodermie, typ 2 |
| uk | Синдром Ротмунда-Томсона, тип 2 | Пойкилодермія Ротмунда-Томсона типу 2 · RTS2 |
| zh | Rothmund-Thomson综合征2型 | Rothmund-Thomson综合征2型皮肤异色症 |
| tr | Rothmund-Thomson sendromu tip 2 | RTS2 · Rothmund-Thomson tip 2'nin Poikiloderması |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 268400 | NTBT | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | LD2B | NTBT | index | validated |
| MONDO | 0016369 | E | validated | |
| UMLS | C5203410 | 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 (2):
- ORPHA:183422Polymalformative genetic syndrome with increased risk of developing cancer
rare genetic diseases; rare neoplastic diseases - ORPHA:2909Rothmund-Thomson syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases; rare ophthalmic disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RECQL4 | 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 | 200 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 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
67 annotations · validated 2020-10-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010783 | Erythema | |
| HP:0000953 | Hyperpigmentation of the skin | |
| HP:0001010 | Hypopigmentation of the skin | |
| HP:0001029 | Poikiloderma | |
| Frequent (79-30%) | ||
| HP:0000164 | Abnormality of the dentition | |
| HP:0100840 | Aplasia/Hypoplasia of the eyebrow | |
| HP:0004334 | Dermal atrophy | |
| HP:0001041 | Facial erythema | |
| HP:0001510 | Growth delay | |
| HP:0005775 | Multiple skeletal anomalies | |
| HP:0002164 | Nail dysplasia | |
| HP:0004322 | Short stature | |
| HP:0001518 | Small for gestational age | |
| HP:0008070 | Sparse hair | |
| HP:0200102 | Sparse or absent eyelashes | |
| Occasional (29-5%) | ||
| HP:0008066 | Abnormal blistering of the skin | |
| HP:0100671 | Abnormal trabecular bone morphology | |
| HP:0000682 | Abnormality of dental enamel | |
| HP:0010978 | Abnormality of immune system physiology | |
| HP:0003995 | Abnormality of the radial head | |
| HP:0004039 | Abnormality of ulnar metaphysis | |
| HP:0007418 | Alopecia totalis | |
| HP:0001903 | Anemia | |
| HP:0006496 | Aplasia/hypoplasia involving bones of the upper limbs | |
| HP:0002671 | Basal cell carcinoma | |
| HP:0000670 | Carious teeth | |
| HP:0000175 | Cleft palate | |
| HP:0000028 | Cryptorchidism | |
| HP:0001875 | Decreased total neutrophil count | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0000519 | Developmental cataract | |
| HP:0002014 | Diarrhea | |
| HP:0000282 | Facial edema | |
| HP:0012719 | Functional abnormality of the gastrointestinal tract | |
| HP:0002970 | Genu varum | |
| HP:0000218 | High palate | |
| HP:0001373 | Joint dislocation | |
| HP:0003189 | Long nose | |
| HP:0002665 | Lymphoma | |
| HP:0004979 | Metaphyseal sclerosis | |
| HP:0031367 | Metaphyseal striations | |
| HP:0000691 | Microdontia | |
| HP:0002863 | Myelodysplasia | |
| HP:0040288 | Nasogastric tube feeding | |
| HP:0008069 | Neoplasm of the skin | |
| HP:0000938 | Osteopenia | |
| HP:0002669 | Osteosarcoma | |
| HP:0006443 | Patellar aplasia | |
| HP:0003065 | Patellar hypoplasia | |
| HP:0002756 | Pathologic fracture | |
| HP:0007556 | Plantar hyperkeratosis | |
| HP:0010049 | Short metacarpal | |
| HP:0009803 | Short phalanx of finger | |
| HP:0000417 | Slender nose | |
| HP:0002860 | Squamous cell carcinoma | |
| HP:0100238 | Synostosis involving bones of the upper limbs | |
| HP:0009804 | Tooth agenesis | |
| HP:0002013 | Vomiting | |
| Very rare (<4-1%) | ||
| HP:0001915 | Aplastic anemia | |
| HP:0003761 | Calcinosis | |
| HP:0009700 | Finger symphalangism | |
| HP:0001118 | Juvenile cataract | |
| HP:0001909 | Leukemia | |
| HP:0002861 | Melanoma | |
| HP:0200044 | Porokeratosis | |
| Excluded (0%) | ||
| HP:0001249 | Intellectual disability | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 27287744[PMID]_31303264[PMID]_20301415[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/221016
- This record as JSON: /data/d/221016.json