ORPHA:783
Rubinstein-Taybi syndrome
Synonyms: Broad thumb-hallux syndrome · Broad thumbs-halluces syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Unknown
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare, genetic malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, and broad thumbs and halluces), short stature, intellectual disability and behavioral characteristics.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Rubinstein-Taybi syndrome | Broad thumb-hallux syndrome · Broad thumbs-halluces syndrome |
| fr | Syndrome de Rubinstein-Taybi | Syndrome des pouces et des gros orteils trop larges |
| de | Rubinstein-Taybi-Syndrom | Syndrom der breiten Daumen und Großzehen |
| es | Síndrome de Rubinstein-Taybi | |
| it | Sindrome di Rubinstein-Taybi | |
| nl | Syndroom van Rubinstein-Taybi | Brede duim-hallux-syndroom · Brede duimen-halluces-syndroom |
| pt | Síndrome Rubinstein-Taybi | |
| pl | Zespół Rubinsteina i Taybiego | = en |
| cs | Rubinsteinův-Taybiho syndrom | Rubinstein-Taybiho syndrom |
| uk | Синдром Рубінштейна-Тейбі | Синдром широкого великого пальця · Синдром широких великих пальців |
| zh | Rubinstein-Taybi综合征 | 宽指综合征 |
| tr | Rubinstein-Taybi sendromu | Geniş başparmak-halluks sendromu · Geniş başparmak-halluks sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 180849 | BTNT | validated | |
| OMIM | 610543 | BTNT | validated | |
| OMIM | 613684 | BTNT | validated | |
| ICD-10 | Q87.2 | NTBT | inclusion | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0019188 | E | validated | |
| MeSH | D012415 | E | validated | |
| UMLS | C0035934 | E | validated | |
| GARD | 7593 | E | validated | |
| MedDRA | 10039281 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (11):
- ORPHA:498454Dysostosis with brachydactyly with extraskeletal manifestations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:183570Genetic malformation syndrome with short stature
rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:252190Inherited nervous system cancer-predisposing syndrome
rare neurological diseases - ORPHA:98655Lens shape anomaly
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - ORPHA:139021Malformation syndrome with short stature
rare developmental anomalies during embryogenesis - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:183422Polymalformative genetic syndrome with increased risk of developing cancer
rare genetic diseases; rare neoplastic diseases - ORPHA:98638Rare disease with glaucoma as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:240371Syndromic obesity
rare developmental anomalies during embryogenesis; rare genetic diseases; rare endocrine diseases - ORPHA:93547Syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare transplant-related disorders
4
Genes
0 direct · 3 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 |
|---|---|---|---|---|---|---|---|---|---|
| EP300 | ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:3373 | ENSG00000100393 | 602700 | 22q13.2 | EP300 lysine acetyltransferase | 20301699[PMID] |
| CREBBP | ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutations | Disease-causing germline mutation(s) in | Assessed | HGNC:2348 | ENSG00000005339 | 600140 | 16p13.3 | CREB binding lysine acetyltransferase | 20301699[PMID] |
| CREBBP | ORPHA:353281Rubinstein-Taybi syndrome due to 16p13.3 microdeletion | Role in the phenotype of | Assessed | HGNC:2348 | ENSG00000005339 | 600140 | 16p13.3 | CREB binding lysine acetyltransferase | 20301699[PMID] |
5
Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.9 / 100 000 | Netherlands | Value and class | Validated | 2118773[PMID] |
| Point prevalence | 1-9 / 100 000 | — | Netherlands | Class only | Validated | 2118773[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.7 / 100 000 | Europe | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2005-2012[OTHER] |
| Point prevalence | 1-9 / 100 000 | — | Europe | 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.
6
HPO phenotypes
66 annotations · validated 2024-03-29| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001156 | Brachydactyly | |
| HP:0010059 | Broad hallux phalanx | |
| HP:0011304 | Broad thumb | |
| HP:0000444 | Convex nasal ridge | |
| HP:0000750 | Delayed speech and language development | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0001531 | Failure to thrive in infancy | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0001263 | Global developmental delay | |
| HP:0000218 | High palate | |
| HP:0000316 | Hypertelorism | |
| HP:0001249 | Intellectual disability | |
| HP:0001382 | Joint hypermobility | |
| HP:0000369 | Low-set ears | |
| HP:0004322 | Short stature | |
| HP:0011087 | Talon cusp | |
| HP:0000506 | Telecanthus | |
| Frequent (79-30%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0001273 | Abnormal corpus callosum morphology | |
| HP:0009832 | Abnormal distal phalanx morphology of finger | |
| HP:0001627 | Abnormal heart morphology | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0000119 | Abnormality of the genitourinary system | |
| HP:0031087 | Absent pubertal growth spurt | |
| HP:0000739 | Anxiety | |
| HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000708 | Atypical behavior | |
| HP:0000729 | Autistic behavior | |
| HP:0000670 | Carious teeth | |
| HP:0000518 | Cataract | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0100760 | Clubbing of toes | |
| HP:0000589 | Coloboma | |
| HP:0002019 | Constipation | |
| HP:0000028 | Cryptorchidism | |
| HP:0000286 | Epicanthus | |
| HP:0002230 | Generalized hirsutism | |
| HP:0000501 | Glaucoma | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0000737 | Irritability | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0000579 | Nasolacrimal duct obstruction | |
| HP:0030434 | Pilomatrixoma | |
| HP:0002719 | Recurrent infections | |
| HP:0002098 | Respiratory distress | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0010535 | Sleep apnea | |
| HP:0000486 | Strabismus | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0006530 | Abnormal pulmonary interstitial morphology | |
| HP:0001631 | Atrial septal defect | |
| HP:0000987 | Atypical scarring of skin | |
| HP:0005743 | Avascular necrosis of the capital femoral epiphysis | |
| HP:0005306 | Capillary hemangioma | |
| HP:0002308 | Chiari malformation | |
| HP:0000678 | Dental crowding | |
| HP:0006101 | Finger syndactyly | |
| HP:0000365 | Hearing impairment | |
| HP:0001385 | Hip dysplasia | |
| HP:0010562 | Keloids | |
| HP:0001513 | Obesity | |
| HP:0001561 | Polyhydramnios | |
| HP:0000508 | Ptosis | |
| HP:0001250 | Seizure | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 20301699[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/783
- This record as JSON: /data/d/783.json