Hepatic fibrosis-renal cysts-intellectual disability syndrome
historical
Synonyms: Thompson-Baraitser syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- historical
Hepatic fibrosis-renal cysts-intellectual disability syndrome is a rare, syndromic intellectual disability characterized by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnea. There have been no further descriptions in the literature since 1987.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hepatic fibrosis-renal cysts-intellectual disability syndrome | Thompson-Baraitser syndrome |
| fr | Syndrome de fibrose hépatique-kystes rénaux-déficience intellectuelle | Syndrome de Thompson-Baraitser |
| de | Hepatische Fibrose-Nierenzysten-Intelligenzminderung-Syndrom | Syndromale Intelligenzminderung mit Leberfibrose und Nierenzysten · Thompson-Baraitser-Syndrom |
| es | Síndrome de fibrosis hepática-quistes renales-discapacidad intelectual | Síndrome de Thompson-Baraitser |
| it | Sindrome da fibrosi epatica, cisti renali e disabilità intellettiva | Sindrome di Thompson-Baraitser |
| nl | Hepatische fibrose - renale cysten - intellectuele achterstand-syndroom | Syndroom van Thompson-Baraitser |
| pt | Síndrome de fibrose hepática-quistos renais-perturbação do desenvolvimento intelectual | Síndrome Thompson-Baraitser |
| pl | Zwłóknienie wątroby - torbiele nerek - niepełnosprawność intelektualna | Zespół Thompsona i Baraitsera |
| cs | Syndrom zahrnující hepatickou fibrózu, renální cysty a mentální retardaci | Thompsonův-Baraitserův syndrom · Thompson-Baraitserův syndrom |
| uk | Синдром фіброзу печінки-кісти нирок-інтелектуальної недостатності | Синдром Томпсона-Барайзера |
| zh | 肝纤维化-肾囊肿-智力障碍综合征 | Thompson-Baraitser综合征 |
| tr | Karaciğer fibrozu-böbrek kistleri-zihinsel yetersizlik sendromu | Thompson-Baraitser sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 213010 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD90.Y | NTBT | attributed | validated |
| MONDO | 0008941 | E | validated | |
| MeSH | C536515 | E | validated | |
| UMLS | C2931226 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:93587Genetic cystic renal disease
rare genetic diseases; rare renal diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:156604Genetic parenchymatous liver disease
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:101939Rare parenchymal liver disease
rare hepatic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 3085498[PMID]_4430157[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3085498[PMID]_4430157[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.
HPO phenotypes
29 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002612 | Congenital hepatic fibrosis | |
| HP:0001249 | Intellectual disability | |
| HP:0000508 | Ptosis | |
| Frequent (79-30%) | ||
| HP:0007477 | Abnormal dermatoglyphics | |
| HP:0100022 | Abnormality of movement | |
| HP:0000478 | Abnormality of the eye | |
| HP:0000504 | Abnormality of vision | |
| HP:0000463 | Anteverted nares | |
| HP:0004422 | Biparietal narrowing | |
| HP:0000581 | Blepharophimosis | |
| HP:0000567 | Chorioretinal coloboma | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000162 | Glossoptosis | |
| HP:0000364 | Hearing abnormality | |
| HP:0001276 | Hypertonia | |
| HP:0002435 | Meningocele | |
| HP:0000003 | Multicystic kidney dysplasia | |
| HP:0000639 | Nystagmus | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000411 | Protruding ear | |
| HP:0000107 | Renal cyst | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0001250 | Seizure | |
| HP:0003196 | Short nose | |
| HP:0004322 | Short stature | |
| HP:0000486 | Strabismus | |
| HP:0000430 | Underdeveloped nasal alae | |
| HP:0002119 | Ventriculomegaly | |
| HP:0000505 | Visual impairment | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2031
- This record as JSON: /data/d/2031.json