{"orpha":1969,"name":"Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["FACES syndrome","Friedman-Goodman syndrome"],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (mild eyelid ptosis, xanthelasma, anterverted nostrils, bifid nasal tip, short palate), severe muscle wasting and cachexia, retinitis pigmentosa, numerous lentigines and café-au-lait spots, as well as mild, soft tissue syndactyly. Additional features include nasal speech, chest asymmetry, pectus excavatum, genu varum, pes planus, and thyroid papillary carcinoma and diffuse enlargement. There have been no further description in the literature since 1984.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1969/","orphanet_url":"https://www.orpha.net/en/disease/detail/1969","names":{"fr":{"name":"Syndrome de dysmorphie faciale-anorexie-cachexie-anomalies oculaires et cutanées","synonyms":["Syndrome de FACES","Syndrome de Friedman-Goodman"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique rare d'origine génétique caractérisé par une dysmorphie faciale (un léger ptosis, xanthélasma, narines antéversées, pointe du nez bifide, palais court), une fonte musculaire sévère et une cachexie, une rétinite pigmentaire, de nombreuses lentigines et taches café-au-lait, ainsi qu'une légère syndactylie des tissus mous. Parmi les autres caractéristiques de la maladie figurent : voix nasillarde, asymétrie thoracique, pectus excavatum, genu varum, pes planus, carcinome papillaire de la thyroïde et hypertrophie diffuse de la thyroïde. Aucun cas n'a été décrit dans la littérature depuis 1984."},"de":{"name":"Gesichtsdysmorphie-Anorexie-Kachexie-Augen- und Hautanomalien-Syndrom","synonyms":["FACES-Syndrom","Friedman-Goodman-Syndrom"]},"es":{"name":"Síndrome de dismorfia facial-anorexia-caquexia-anomalías oculares y cutáneas","synonyms":["Síndrome FACES","Síndrome de Frieman-Goodman"],"definition":"El síndrome de dismorfia facial - anorexia - caquexia - anomalías oculares y cutáneas es un síndrome dismórfico por múltiples anomalías congénitas, genético y poco frecuente, que se caracteriza por dismorfia facial (leve ptosis palpebral, xantelasma, fosas nasales antevertidas, punta nasal bífida, paladar corto), grave atrofia muscular y caquexia, retinitis pigmentosa, numerosos léntigos y manchas café con leche, así como sindactilia de tejidos blandos. Otras características adicionales incluyen voz hipernasal, asimetría torácica, <i>pectus excavatum</i>, genu varo, pie plano y carcinoma papilar de tiroides y agrandamiento difuso. No se han descrito más casos en la literatura desde 1984."},"it":{"name":"Sindrome da dismorfismi facciali, anoressia, cachessia, anomalie oculari e cutanee","synonyms":["Sindrome di Friedman-Goodman"],"definition":"La sindrome che associa i dismorfismi facciali, l'anoressia, la cachessia e le anomalie oculari e cutanee è una malattia genetica rara da anomalie/dismorfismi congeniti multipli, caratterizzata da dismorfismi facciali (lieve ptosi delle palpebre, xantelasma, narici anteverse, punta del naso bifida, palato corto), grave atrofia muscolare e cachessia, retinite pigmentosa, numerose lentiggini e macchie caffè-latte, e lieve sindattilia cutanea. Altri segni clinici sono la voce nasale, l'asimmetria del torace, il pectus excavatum, il ginocchio varo, il piede piatto, il carcinoma papillare della tiroide e un gonfiore diffuso. Non sono stati descritti nuovi casi dopo il 1984."},"nl":{"name":"Faciale dysmorfie - anorexie - cachexie - oog- en huidanomalieën-syndroom","synonyms":["FACES-syndroom","Syndroom van Friedman-Goodman"],"definition":"Faciale dysmorfie - anorexie - cachexie - oog- en huidanomalieën-syndroom is een zeldzaam, genetisch meervoudige congenitale anomalieën/dysmorfie-syndroom dat gekarakteriseerd wordt door faciale dysmorfie (milde ptose van de oogleden, xanthelasma, anteversie van de neusgaten, gespleten neuspunt, kort verhemelte), ernstige spieratrofie en cachexie, retinitis pigmentosa, talloze lentigines en café-au-lait vlekken, alsook milde syndactylie van weke delen. Bijkomende kenmerken zijn onder meer nasale spraak, asymmetrie van de borstkas, pectus excavatum, genu varum, pes planus, en papillair carcinoom en diffuse vergroting van de schildklier. Sinds 1984 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de dismorfia facial-anorexia-caquexia-anomalias oculares e cutâneas","synonyms":["Síndrome FACES","Síndrome Friedman-Goodman"]},"pl":{"name":"Zespół dysmorfii twarzy, anoreksji, kacheksji, wad oczu i skóry","synonyms":["Zespół Friedmana i Goodmana"],"definition":"*Zespół dysmorfii twarzy, anoreksji, kacheksji, wad oczu i skóry jest rzadkim, genetycznie uwarunkowanym zespołem mnogich wad wrodzonych/zespołem dysmorficznym, który charakteryzuje się dysmorfią twarzy (łagodne opadanie powiek, żółte kępki powiek, zadarte nozdrza, rozszczepiony czubek nosa, krótkie podniebienie), ciężkim zanikiem mięśni i wyniszczeniem, barwnikowym zwyrodnieniem siatkówki, licznymi plamami soczewicowatymi i typu café-au-lait oraz łagodną syndaktylią dotyczącą tkanki miękkiej. Dodatkowe cechy to mowa nosowa, asymetria klatki piersiowej, klatka piersiowa wydrążona, szpotawość kolan, płaskostopie i rak brodawkowaty tarczycy wraz z jej rozlanym powiększeniem. Od 1984 roku w literaturze nie ma nowych opisów."},"cs":{"name":"Syndrom zahrnující faciální dysmorfismus, anorexii, kachexii a anomálie oka a kůže","synonyms":["FACES syndrom","Friedmanův-Goodmanův syndrom","Friedman-Goodmanův syndrom"]},"uk":{"name":"Синдром дисморфізму обличчя-анорексії-кахексії-аномалій очей та шкіри","synonyms":["Синдром FACES","Синдром Фрідмана-Гудмана"],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (mild eyelid ptosis, xanthelasma, anterverted nostrils, bifid nasal tip, short palate), severe muscle wasting and cachexia, retinitis pigmentosa, numerous lentigines and café-au-lait spots, as well as mild, soft tissue syndactyly. Additional features include nasal speech, chest asymmetry, pectus excavatum, genu varum, pes planus, and thyroid papillary carcinoma and diffuse enlargement. There have been no further description in the literature since 1984."},"zh":{"name":"面部畸形-厌食-恶病质-眼和皮肤异常综合征","synonyms":["Friedman-Goodman综合征"]},"tr":{"name":"Yüz dismorfizmi-anoreksi-kaşeksi-göz ve cilt anomalileri sendromu","synonyms":["FACES sendromu","Friedman-Goodman sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0016031","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536384","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931183","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2221","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["No data available"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"6438152[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_6438152[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002039","label":"Anorexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004326","label":"Cachexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002970","label":"Genu varum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004122","label":"Midline defect of the nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000820","label":"Abnormality of the thyroid gland","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001608","label":"Abnormality of the voice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001555","label":"Asymmetry of the thorax","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000995","label":"Melanocytic nevus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007565","label":"Multiple cafe-au-lait spots","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010290","label":"Short hard palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001633","label":"Abnormal mitral valve morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007513","label":"Generalized hypopigmentation","frequency":"Occasional (29-5%)","criteria":null}]}}