{"orpha":137622,"name":"Intractable diarrhea-choanal atresia-eye anomalies syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"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.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-137622/","orphanet_url":"https://www.orpha.net/en/disease/detail/137622","names":{"fr":{"name":"Syndrome de diarrhée intraitable-atrésie choanale-anomalie des yeux","definition":"Le syndrome de diarrhée intraitable-atrésie choanale-anomalie des yeux se caractérise par une diarrhée infantile intraitable associée à une atrésie des choanes. Une petite taille, une arête nasale large et proéminente, une micrognatie, un pli palmaire simple, une inflammation chronique de la cornée, une cytopénie épisodique et une texture anormale des cheveux sont également présents. Ce syndrome a été décrit chez trois enfants d'une même fratrie. La présence d'une intelligence normale et l'absence de déficit immunitaire le distingue des syndromes de diarrhée infantile intraitable préalablement décrits."},"de":{"name":"Snydrom der therapieresistente Diarrhoe mit Choanalatresie und Augenanomalien","definition":"Dieses Syndrom ist gekennzeichnet durch therapieresistente Diarrhoe des Kleinkindalters mit Choanalatresie. Weitere Symptome sind Kleinwuchs, hoher und breiter Nasenrücken, Mikrogenie, Vierfingerfurche, chronische Keratitis, Leukozytopenie und abnorme Haarstruktur. Bisher wurde das Syndrom in 1 Familie bei 3 Kindern beschrieben. Durch normale Intelligenz und normale Funktion des Immunsystems unterscheidet sich dieses Syndrom von früher beschriebenen therapieresistenten Diarrhoen."},"es":{"name":"Síndrome de diarrea intratable-atresia coanal-anomalías en los ojos","definition":"Este síndrome se caracteriza por la asociación de diarrea infantil intratable y atresia coanal. Aparecen también descritos: estatura baja, raíz nasal ancha y prominente, micrognatia, pliegue palmar único, inflamación crónica de la córnea, citopenia y textura anormal del cabello. Hasta el momento, el síndrome ha sido descrito en tres niños de la misma familia. La inteligencia normal y la ausencia de deficiencia inmunitaria permitieron distinguirlo de otros síndromes de diarrea infantil intratable descritos anteriormente."},"it":{"name":"Diarrea intrattabile - atresia delle coane - anomalie oculari"},"nl":{"name":"Refractaire diarree - choane atresie - ooganomalieën-syndroom","definition":"Refractaire diarree - choanale atresie - ooganomalieën-syndroom wordt gekenmerkt door de associatie van therapieresistente diarree in de zuigelingentijd met choanale atresie. Kleine gestalte, prominente en brede neusbrug, micrognathie, doorlopende dwarse handlijn van handpalm, chronische inflammatie van hoornvlies, cytopenie, en abnormale textuur van haar werden ook gerapporteerd. Tot op heden werd het syndroom beschreven bij drie kinderen uit dezelfde familie. De afwezigheid van intellectuele achterstand en immuundeficiëntie laat toe dit syndroom te onderscheiden van andere vormen van refractaire diarree bij zuigelingen die eerder werden beschreven."},"pt":{"name":"Síndrome de diarreia intratável-atresia das coanas-anomalias do olho","definition":"Esta síndrome é caracterizada por associação de diarreia intratável da infância com atresia coanal. Foi também descrito baixa estatura, uma ponte nasal proeminente e ampla, micrognatia, vinculos palmares únicos, inflamação crónica da córnea, citopenia, e textura do cabelo anormal."},"pl":{"name":"Biegunka nieustępująca - atrezja nozdrzy - wady oczu"},"cs":{"name":"Syndrom zahrnující velmi těžký průjem, atrézii choan a oční anomálie"},"uk":{"name":"Синдром невиліковної діареї - атрезії хоан - аномалії розвитку очей","definition":"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."},"zh":{"name":"顽固性腹泻后鼻孔闭锁眼异常综合征","definition":"难治性腹泻-后肛门闭锁-眼畸形综合征的特点是与婴幼儿难治性腹泻和后肛门闭锁相关联。身材矮小，鼻桥突出而宽阔，小颌，单掌纹，慢性角膜炎症，细胞减少，和异常的毛发纹理也有报道。到目前为止，来自同一个家庭的三个孩子都有这种症状。由于缺乏智力障碍和免疫缺陷的表现，这一综合征可以区别于前面所述的其他形式的婴幼儿顽固性腹泻。"},"tr":{"name":"İnatçı ishal-koanal atrezi-göz anomalileri sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"DA90.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"103107377"},{"source":"MONDO","code":"0015295","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304307","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"19882","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":363300,"name":"Genetic intractable diarrhea of infancy","classifications":[156]},{"orpha":435606,"name":"Genetic nose and cavum anomaly","classifications":[156]},{"orpha":73014,"name":"Intractable diarrhea of infancy","classifications":[152,233]},{"orpha":156246,"name":"Nose and cavum anomaly","classifications":[147,200]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"17786112[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_17786112[PMID]"}],"phenotypes":null}