ORPHA:3103
Roberts syndrome
Synonyms: Pseudothalidomide syndrome · Roberts-SC phocomelia syndrome · SC phocomelia · SC pseudothalidomide syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of highly variable limb reduction defects affecting both upper and lower limbs, growth retardation, microcephaly, craniofacial anomalies and variable neurodevelopmental delay.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Roberts syndrome | Pseudothalidomide syndrome · Roberts-SC phocomelia syndrome · SC phocomelia · SC pseudothalidomide syndrome |
| fr | Syndrome de Roberts | Phocomélie SC · Syndrome de phocomélie SC de Roberts · Syndrome pseudothalidomide · Syndrome pseudothalidomide SC |
| de | Roberts-Syndrom | Pseudothalidomid-Syndrom · Roberts-SC-Phokomelie-Syndrom · SC-Phokomelie · SC-Pseudothalidomid-Syndrom |
| es | Síndrome de Roberts | SC focomelia · Síndrome de Roberts-SC focomelia · Síndrome pseudotalidomida · Síndrome pseudotalidomida SC |
| it | Sindrome di Roberts | SC focomelia · Sindrome da focomelia SC di Roberts · Sindrome pseudo-talidomide · Sindrome pseudo-talidomide SC |
| nl | Syndroom van Roberts | Pseudothalidomidesyndroom · Roberts-SC-focomeliesyndroom · SC-focomelie · SC-pseudothalidomidesyndroom |
| pt | Síndrome Roberts | |
| pl | Zespół Robertsa | SC spół pseudotalidomidowy · SC fokomelia · Zespół pseudotalidomidowy · Zespół Robertsa - S.C. fokomelia |
| cs | Robertsův syndrom | Pseudothalidomidový syndrom · Syndrom Robertsovy-SC fokomélie · SC fokomélie · SC pseudothalidomidový syndrom |
| uk | Синдром Робертса | Псевдоталідомідний синдром · Синдром фокомелії Робертса-SC · Фокомелія SC · Синдром псевдоталідоміда SC |
| zh | Roberts综合征 | Roberts-SC短肢畸形综合征 |
| tr | Roberts sendromu | SC phocomelia · Psödotalidomit sendromu · SC psödotalidomid sendromu · Roberts-SC fokomeli sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 268300 | E | validated | |
| ICD-10 | Q73.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0100253 | E | validated | |
| MONDO | 100253 | E | validated | |
| MeSH | C535687 | E | validated | |
| UMLS | C0392475 | E | validated | |
| GARD | 7387 | E | validated | |
| MedDRA | 10084326 | 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:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:404574Genetic syndrome with limb reduction defects
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:98648Musculoskeletal disease with cataract
rare genetic diseases; rare ophthalmic disorders - ORPHA:139039Orofacial clefting syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases - ORPHA:294955Syndrome with limb reduction defects
rare developmental anomalies during embryogenesis; rare bone diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ESCO2 | Disease-causing germline mutation(s) in | Assessed | HGNC:27230 | ENSG00000171320 | 609353 | 8p21.1 | establishment of sister chromatid cohesion N-acetyltransferase 2 | 20301332[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 150 cases | Worldwide | Case(s) | Validated | 20301332[PMID] | |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_20301332[PMID] |
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
54 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002817 | Abnormality of the upper limb | |
| HP:0009601 | Aplasia/Hypoplasia of the thumb | |
| HP:0006487 | Bowing of the long bones | |
| HP:0000248 | Brachycephaly | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0009943 | Complete duplication of thumb phalanx | |
| HP:0000316 | Hypertelorism | |
| HP:0002984 | Hypoplasia of the radius | |
| HP:0000272 | Malar flattening | |
| HP:0005011 | Mesomelic arm shortening | |
| HP:0000252 | Microcephaly | |
| HP:0009829 | Phocomelia | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0009623 | Proximal placement of thumb | |
| HP:0009466 | Radial deviation of finger | |
| HP:0008846 | Severe intrauterine growth retardation | |
| HP:0008070 | Sparse hair | |
| HP:0000430 | Underdeveloped nasal alae | |
| Frequent (79-30%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0000377 | Abnormal pinna morphology | |
| HP:0000387 | Absent earlobe | |
| HP:0001156 | Brachydactyly | |
| HP:0000518 | Cataract | |
| HP:0000175 | Cleft palate | |
| HP:0000204 | Cleft upper lip | |
| HP:0008665 | Clitoral hypertrophy | |
| HP:0000028 | Cryptorchidism | |
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| HP:0000040 | Long penis | |
| HP:0000347 | Micrognathia | |
| HP:0007452 | Midface capillary hemangioma | |
| HP:0001622 | Premature birth | |
| HP:0000520 | Proptosis | |
| HP:0002974 | Radioulnar synostosis | |
| HP:0009891 | Underdeveloped supraorbital ridges | |
| Occasional (29-5%) | ||
| HP:0007598 | Bilateral single transverse palmar creases | |
| HP:0000592 | Blue sclerae | |
| HP:0001363 | Craniosynostosis | |
| HP:0006101 | Finger syndactyly | |
| HP:0000501 | Glaucoma | |
| HP:0000218 | High palate | |
| HP:0006380 | Knee flexion contracture | |
| HP:0000568 | Microphthalmia | |
| HP:0000639 | Nystagmus | |
| HP:0006443 | Patellar aplasia | |
| HP:0000113 | Polycystic kidney dysplasia | |
| HP:0001561 | Polyhydramnios | |
| HP:0005876 | Progressive flexion contractures | |
| HP:0001852 | Sandal gap | |
| HP:0000470 | Short neck | |
| HP:0005048 | Synostosis of carpal bones | |
| HP:0001873 | Thrombocytopenia | |
| HP:0001239 | Wrist flexion contracture | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3103
- This record as JSON: /data/d/3103.json