Intractable diarrhea-choanal atresia-eye anomalies syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
Intractable diarrhea-choanal atresia-eye anomalies syndrome is characterised by the association of intractable diarrhoea of infancy with choanal atresia. Short stature, a prominent and broad nasal bridge, micrognathia, single palmar creases, chronic corneal inflammation, cytopenia, and abnormal hair texture were also reported. So far, the syndrome has been described in three children from the same family. The absence of intellectual deficit and immune deficiency allow this syndrome to be distinguished from other forms of intractable diarrhoea of infancy described previously.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Intractable diarrhea-choanal atresia-eye anomalies syndrome | |
| fr | Syndrome de diarrhée intraitable-atrésie choanale-anomalie des yeux | |
| de | Snydrom der therapieresistente Diarrhoe mit Choanalatresie und Augenanomalien | |
| es | Síndrome de diarrea intratable-atresia coanal-anomalías en los ojos | |
| it | Diarrea intrattabile - atresia delle coane - anomalie oculari | |
| nl | Refractaire diarree - choane atresie - ooganomalieën-syndroom | |
| pt | Síndrome de diarreia intratável-atresia das coanas-anomalias do olho | |
| pl | Biegunka nieustępująca - atrezja nozdrzy - wady oczu | |
| cs | Syndrom zahrnující velmi těžký průjem, atrézii choan a oční anomálie | |
| uk | Синдром невиліковної діареї - атрезії хоан - аномалії розвитку очей | |
| zh | 顽固性腹泻后鼻孔闭锁眼异常综合征 | |
| tr | İnatçı ishal-koanal atrezi-göz anomalileri sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | DA90.Y | NTBT | index | validated |
| MONDO | 0015295 | E | validated | |
| UMLS | C4304307 | E | validated | |
| GARD | 19882 | 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 (4):
- ORPHA:363300Genetic intractable diarrhea of infancy
rare genetic diseases - ORPHA:435606Genetic nose and cavum anomaly
rare genetic diseases - ORPHA:73014Intractable diarrhea of infancy
rare gastroenterological diseases; rare transplant-related disorders - ORPHA:156246Nose and cavum anomaly
rare developmental anomalies during embryogenesis; rare otorhinolaryngological 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 | 3 cases | Worldwide | Case(s) | Validated | 17786112[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_17786112[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/137622
- This record as JSON: /data/d/137622.json