{"orpha":1974,"name":"Autosomal recessive faciodigitogenital syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Aarskog-like syndrome","Facio-digito-genital syndrome, Kuwait type","Teebi-Naguib-Alawadi syndrome"],"definition":"A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1974/","orphanet_url":"https://www.orpha.net/en/disease/detail/1974","names":{"fr":{"name":"Syndrome faciodigitogénital autosomique récessif","synonyms":["Syndrome d'Aarskog-like","Syndrome de Teebi-Naguib-al Awadi","Syndrome facio-digito-génital type Koweït"],"definition":"Le syndrome facio-digito-génital autosomique récessif est un syndrome très rare associant une petite taille, une dysmorphie faciale, des anomalies des extrémités et un scrotum en châle."},"de":{"name":"Fazio-digito-genitales Syndrom, autosomal-rezessive Form","synonyms":["Aarskog-ähnliches Syndrom","Fazio-digito-genitales Syndrom vom Typ Kuwait","Teebi-Naguib-Alawadi-Syndrom"],"definition":"Das autosomal-rezessive Fazio-digito-genitale Syndrom ist sehr selten und gekennzeichnet durch Kleinwuchs, faziale Dysmorphien, Handfehlbildungen und Schalskrotum."},"es":{"name":"Síndrome facio-dígito-genital autosómico recesivo","synonyms":["Síndrome de Teebi-Naguib-Alawadi","Síndrome facio-dígito-genital tipo Kuwait","Síndrome similar a Aarskog"],"definition":"Es un síndrome muy raro que incluye talla baja, dismorfia facial, anomalías de la mano y escroto en forma de chal."},"it":{"name":"Sindrome facio-digito-genitale, forma recessiva","synonyms":["Sindrome Aarskog-simile","Sindrome di Teebi-Naguib-Al Alawadi","Sindrome facio-digito-genitale, tipo Kuwait"]},"nl":{"name":"Autosomaal recessief faciodigitogenitaal syndroom","synonyms":["Aarskog-achtig syndroom","Faciodigitogenitaal syndroom, Koeweit-type","Syndroom van Teebi-Naguib-Alawadi"],"definition":"Een zeer zeldzaam syndroom met onder meer kleine gestalte, faciale dysmorfie, handafwijkingen en sjaalscrotum."},"pt":{"name":"Síndrome facio-digito-genital autossómica recessiva","synonyms":["Síndrome Aarskog-like","Síndrome Teebi-Naguib-Alawadi"],"definition":"A síndrome facio-digito-genital autossómica recessiva é uma síndrome muito rara, incluindo baixa estatura, dismorfismo facial, anomalias da mão e escroto em xaile."},"pl":{"name":"Autosomalny recesywny zespół twarzowo-palcowo-płciowy","synonyms":["Zespół podobny do zespołu Aarskoga","Zespół Teebi, Naguib i Alawadi","Zespół twarzowo-palcowo-płciowy typu kuwejckiego"]},"cs":{"name":"Autozomálně recesivní faciodigitogenitální syndrom","synonyms":["Aarskog-like syndrom","Faciodigitogenitální syndrom, kuvajtský typ","Teebiho-Naguibův-Al-Awadiové syndrom","Teebi-Naguib-Al-Awadiové syndrom"]},"uk":{"name":"Аутосомно-рецесивний фаціодигітогенітальний синдром","synonyms":["Синдром, подібний до синдрому Аарскога","Фаціодігітогенітальний синдром, кувейтський тип","Синдром Тібі-Нагіба-Алаваді"],"definition":"A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum."},"zh":{"name":"常染色体隐性遗传面-指-生殖器综合征","synonyms":["面-指-生殖器综合征，Kuwait型"]},"tr":{"name":"Otozomal resesif fasiyodigitogenital sendrom","synonyms":["Aarskog-benzeri sendrom","Teebi-Naguib-Alawadi sendromu","Fasiyo-dijito-genital sendrom, Kuveyt tipi"]}},"xrefs":[{"source":"OMIM","code":"227330","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009209","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1856871","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183570,"name":"Genetic malformation syndrome with short stature","classifications":[156]},{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":139021,"name":"Malformation syndrome with short stature","classifications":[147]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":165707,"name":"Syndromic urogenital tract malformation","classifications":[147,156,185]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":26.0,"area":"Worldwide","status":"Validated","source":"3398008[PMID]_1770541[PMID]_20607856[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3398008[PMID]_1770541[PMID]_20607856[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002002","label":"Deep philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200021","label":"Down-sloping shoulders","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000472","label":"Long neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000637","label":"Long palpebral fissure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000049","label":"Shawl scrotum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000325","label":"Triangular face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010807","label":"Open bite","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000396","label":"Overfolded helix","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001773","label":"Short foot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002208","label":"Coarse hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011359","label":"Dry hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000974","label":"Hyperextensible skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005599","label":"Hypopigmentation of hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000349","label":"Widow's peak","frequency":"Occasional (29-5%)","criteria":null}]}}