ORPHA:500095
Tall stature-intellectual disability-renal anomalies syndrome
Synonyms: Thauvin-Robinet-Faivre syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare overgrowth syndrome associated with multiple congenital anomalies characterized by tall stature, large hands and feet with large thumbs and halluces, spatulate digits, developmental delay and facial dysmorphism.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Tall stature-intellectual disability-renal anomalies syndrome | Thauvin-Robinet-Faivre syndrome |
| fr | Syndrome de grande taille-déficience intellectuelle-anomalies rénales | Syndrome de Thauvin-Robinet-Faivre |
| de | Hochwuchs-Intelligenzminderung-renale Anomalien-Syndrom | Thauvin-Robinet-Faivre-Syndrom |
| es | Síndrome de talla alta-discapacidad intelectual-anomalías renales | Síndrome de Thauvin-Robinet-Faivre |
| it | Sindrome alta statura - disabilità intellettiva - anomalie renali | |
| nl | Grote gestalte - intellectuele achterstand - renale anomalieën-syndroom | Syndroom van Thauvin-Robinet-Faivre |
| pt | Síndrome de estatura elevada-perturbação do desenvolvimento intelectual-anomalias renais | |
| pl | Zespół wysokiego wzrostu, niepełnosprawności intelektualnej i wad nerek | Zespół Thauvin-Robinet i Faivrego |
| cs | Syndrom zahrnující vysoký vzrůst, mentální retardaci a vady ledvin | Thauvin-Robinet-Faivre syndrome · Thauvin-Robinet-Faivreové syndrom |
| uk | Синдром високорослості-інтелектуальної недостатності-ниркових аномалій | Синдром Товена-Робіне-Фейвра |
| zh | 身材高大-智力障碍-肾发育不良综合征 | = en |
| tr | Uzun boy-zihin engellilik-böbrek anomalileri sendromu | Thauvin-Robinet-Faivre sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617107 | E | validated | |
| ICD-10 | Q87.3 | NTBT | attributed | validated |
| ICD-11 | LD2C | NTBT | attributed | validated |
| MONDO | 0014918 | E | validated | |
| UMLS | C4310715 | 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 (3):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:93547Syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare transplant-related disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FIBP | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:3705 | ENSG00000172500 | 608296 | 11q13.1 | FGF1 intracellular binding protein | 27183861[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 26660953[PMID]_27183861[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26660953[PMID]_27183861[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
47 annotations · validated 2020-01-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0030037 | Bifid ureter | |
| HP:0012385 | Camptodactyly | |
| HP:0410252 | Chronic neutropenia | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| HP:0001520 | Large for gestational age | |
| HP:0000256 | Macrocephaly | |
| HP:0001634 | Mitral valve prolapse | |
| HP:0011407 | Proportionate tall stature | |
| HP:0004712 | Renal malrotation | |
| HP:0000480 | Retinal coloboma | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0001328 | Specific learning disability | |
| HP:0012471 | Thick vermilion border | |
| HP:0410255 | Transient neutropenia | |
| HP:0001629 | Ventricular septal defect | |
| Occasional (29-5%) | ||
| HP:0031069 | Abnormal femoral torsion | |
| HP:0001707 | Abnormal right ventricle morphology | |
| HP:0001172 | Abnormal thumb morphology | |
| HP:0000483 | Astigmatism | |
| HP:0000518 | Cataract | |
| HP:0000490 | Deeply set eye | |
| HP:0000750 | Delayed speech and language development | |
| HP:0000105 | Enlarged kidney | |
| HP:0000286 | Epicanthus | |
| HP:0000316 | Hypertelorism | |
| HP:0000023 | Inguinal hernia | |
| HP:0001176 | Large hands | |
| HP:0001833 | Long foot | |
| HP:0001847 | Long hallux | |
| HP:0000637 | Long palpebral fissure | |
| HP:0000158 | Macroglossia | |
| HP:0000400 | Macrotia | |
| HP:0001840 | Metatarsus adductus | |
| HP:0011800 | Midface retrusion | |
| HP:0000003 | Multicystic kidney dysplasia | |
| HP:0002667 | Nephroblastoma | |
| HP:0000411 | Protruding ear | |
| HP:0000311 | Round face | |
| HP:0003298 | Spina bifida occulta | |
| HP:0000486 | Strabismus | |
| HP:0001762 | Talipes equinovarus | |
| HP:0002982 | Tibial bowing | |
| HP:0100694 | Tibial torsion | |
| HP:0002619 | Varicose veins | |
Annotation source: 26660953[PMID]_27183861[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/500095
- This record as JSON: /data/d/500095.json