ORPHA:1352
Atrioventricular defect-blepharophimosis-radial and anal defect syndrome
Synonyms: Houlston-Ironton-Temple syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Atrioventricular defect-blepharophimosis-radial and anal defect syndrome | Houlston-Ironton-Temple syndrome |
| fr | Syndrome de cardiopathie-blépharophimosis-anomalie du radius-anomalie anale | Syndrome de Houlston-Ironton-Temple |
| de | Atrioventrikulärer Defekt-Blepharophimose- Radial-und Analdefekt-Syndrom | Houlston-Ironton-Temple-Syndrom |
| es | Síndrome de defecto auriculoventricular-blefarofimosis-defecto radial y anal | |
| it | Difetto atrioventricolare - blefarofimosi - difetti radiali e anali | Sindrome di Houlston-Ironton-Temple |
| nl | Atrioventriculair defect - blefarofimosis - radiaal en anaal defect-syndroom | |
| pt | Síndrome de defeito aurículo-ventricular-blefarofimose-defeitos radial e anal | Síndrome Houlston-Ironton-Temple |
| pl | Wada przedsionkowo-komorowa - zwężenie szpary powiekowej - wady kości promieniowej | Zespół Houlstona, Irontona i Temple'a |
| cs | Syndrom zahrnující atrioventrikulární defekt, blefarofimózu a defekty radia a anu | Houlstonův-Irontonův-Templeův syndrom · Houlston-Ironton-Templeův syndrom |
| uk | Синдром атріовентрикулярної вади - блефарофімозу - променевої та анальної вади | Синдром Хоулстона-Іронтона-Темпла |
| zh | 房室缺损-睑裂狭小-桡骨和肛门缺如综合征 | Houlston-Ironton-Temple综合征 |
| tr | Atriyoventriküler defekt-blefarofimoz-radyal ve anal defekt sendromu | Houlston-Ironton-Temple sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600123 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | attributed | validated |
| MONDO | 0010825 | E | validated | |
| UMLS | C4706259 | 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 (4):
- ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:98578Rare disorder with ptosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - ORPHA:156532Rare syndrome with cardiac malformations
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare genetic diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 8031543[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8031543[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
22 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001671 | Abnormal cardiac septum morphology | |
| HP:0000581 | Blepharophimosis | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000252 | Microcephaly | |
| HP:0001107 | Ocular albinism | |
| Frequent (79-30%) | ||
| HP:0000119 | Abnormality of the genitourinary system | |
| HP:0003974 | Absent radius | |
| HP:0002023 | Anal atresia | |
| HP:0001545 | Anteriorly placed anus | |
| HP:0010035 | Aplasia of the 1st metacarpal | |
| HP:0009601 | Aplasia/Hypoplasia of the thumb | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000378 | Cupped ear | |
| HP:0000364 | Hearing abnormality | |
| HP:0003022 | Hypoplasia of the ulna | |
| HP:0000347 | Micrognathia | |
| HP:0000568 | Microphthalmia | |
| HP:0008551 | Microtia | |
| HP:0001336 | Myoclonus | |
| HP:0000486 | Strabismus | |
| HP:0000582 | Upslanted palpebral fissure | |
| HP:0000431 | Wide nasal bridge | |
Run the differential on the 5 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1352
- This record as JSON: /data/d/1352.json