Lymphedema-atrial septal defects-facial changes syndrome
Synonyms: Irons-Bhan syndrome · Irons-Bianchi syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Lymphedema-atrial septal defects-facial changes syndrome is characterised by congenital lymphoedema of the lower limbs, atrial septal defect and a characteristic facies (a round face with a prominent forehead, a flat nasal bridge with a broad nasal tip, epicanthal folds, a thin upper lip and a cleft chin). It has been described in two brothers and a sister. Transmission appears to be autosomal recessive.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lymphedema-atrial septal defects-facial changes syndrome | Irons-Bhan syndrome · Irons-Bianchi syndrome |
| fr | Syndrome de lymphoedème-communication interauriculaire-dysmorphie | Syndrome d'Irons-Bhan · Syndrome d'Irons-Bianchi |
| de | Lymphödem-Atriumseptumdefekte-charakteristische Gesichtszüge-Syndrom | Irons-Bhan-Syndrom · Irons-Bianchi-Syndrom |
| es | Síndrome de linfedema-comunicación interauricular-cambios faciales | Síndrome de Irons-Bhan · Síndrome de Irons-Bianchi |
| it | Linfedema - difetti del setto atriale - alterazioni facciali | Sindrome di Irons-Bianchi |
| nl | Lymfoedeem - atriumseptumdefecten - veranderingen in aangezicht-syndroom | Syndroom van Irons-Bhan · Syndroom van Irons-Bianchi |
| pt | Síndrome de linfedema-defeitos do septo auricular-alterações faciais | |
| pl | Obrzęk limfatyczny - wady przegrody międzyprzedsionkowej - zmiany twarzy | Zespół Ironsa i Bianchi |
| cs | Syndrom zahrnující lymfedém, defekty síňového septa a faciální změny | Ironsové-Bianchiové syndrom · Irons-Bianchiové syndrom |
| uk | Синдром лімфедеми-дефектів міжпередсердної перегородки-зміни обличчя | Синдром Айронса-Бхана · Синдром Айронса-Біанкі |
| zh | 淋巴水肿-房间隔缺损-面部改变综合征 | Irons-Bianchi综合征 |
| tr | Lenfödem-atriyal septal defektler-yüz değişiklikleri sendromu | Irons-Bhan sendromu · Irons-Bianchi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601927 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | BD93.0 | NTBT | index | validated |
| MONDO | 0011166 | E | validated | |
| MeSH | C567398 | E | validated | |
| UMLS | C2677167 | E | validated | |
| GARD | 284 | 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 (1):
- ORPHA:568044Primary lymphedema with systemic or visceral involvement
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases; rare circulatory system 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 | 5 cases | Worldwide | Case(s) | Validated | 19533797[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_19533797[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/86915
- This record as JSON: /data/d/86915.json