{"orpha":480880,"name":"X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females"],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, and dysmorphic facial features (such as facial asymmetry, prominent forehead, short palpebral fissures, low nasal bridge, smooth and long philtrum, thin upper lip, and low-set, posteriorly rotated, dysplastic ears), exclusively affecting females. Additional reported manifestations include short stature, choanal atresia, scoliosis, congenital ocular, dental, cardiac, and urogenital anomalies, as well as hypotonia, seizures, and structural brain abnormalities, among others.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-480880/","orphanet_url":"https://www.orpha.net/en/disease/detail/480880","names":{"fr":{"name":"Syndrome de dysmorphie faciale-petite taille-atrésie des choanes-déficience intellectuelle lié à l'X limité à la femme","synonyms":["Syndrome de dysmorphie faciale-petite taille-atrésie choanale-déficience intellectuelle lié à l'X limité à la femme"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique rare d'origine génétique caractérisé par un retard de développement global, une déficience intellectuelle et une dysmorphie faciale (à savoir, asymétrie faciale, un front proéminent, des fentes palpébrales courtes, un pont nasal bas, un philtrum lisse et long, une lèvre supérieure fine et des oreilles dysplasiques à implantation basse et inclinées vers l'arrière), touchant exclusivement les femmes. Les autres signes cliniques rapportés sont notamment une petite taille, une atrésie des choanes, la scoliose, les anomalies congénitales oculaires, dentaires, cardiaques et urogénitales, une hypotonie, des crises convulsives et des anomalies cérébrales structurelles."},"de":{"name":"X-chromosomale Gesichtsdysmorphien-Kleinwuchs-Choanalatresie-Intelligenzminderung-Syndrom, auf das weibl. Geschl. beschränkt","definition":"Ein seltenes genetisch bedingtes Dysmorphie-Syndrom mit multiplen Anomalien, das ausschließlich bei Frauen auftritt und durch eine globale Entwicklungsverzögerung, Intelligenzminderung und dysmorphe Gesichtsdysmorphien (z. B. Asymmetrie des Gesichts, prominente Stirn, kurze Lidspalten, niedriger Nasenrücken, glattes und langes Philtrum, dünne Oberlippe und tief angesetzte, nach hinten gedrehte, dysplastische Ohren) gekennzeichnet ist . Weitere berichtete Manifestationen sind Kleinwuchs, Choanalatresie, Skoliose, angeborene Augen-, Zahn-, Herz- und Urogenitalanomalien sowie Hypotonie, Krampfanfälle und strukturelle Anomalien des Gehirns."},"es":{"name":"Dismorfia facial restringida a mujeres ligada al cromosoma X-talla baja-atresia de coanas-discapacidad intelectual","synonyms":["Síndrome de dismorfia facial-talla baja-atresia de coanas-discapacidad intelectual restringido a mujeres ligado al cromosoma X"],"definition":"Es un síndrome dismórfico/ de múltiples anomalías congénitas de base genética y poco frecuente que se caracteriza por un retraso global del desarrollo, discapacidad intelectual y rasgos faciales dismórficos (como asimetría facial, frente prominente, fisuras palpebrales cortas, puente nasal bajo, filtrum liso y alargado, labio superior fino y orejas displásicas de baja implantación en rotación posterior), que afecta exclusivamente a las mujeres. Otras manifestaciones descritas incluyen talla baja, atresia de coanas, escoliosis y anomalías oculares, dentales, cardíacas y urogenitales congénitas, así como hipotonía, crisis y anomalías cerebrales estructurales, entre otras."},"it":{"name":"Dismorfismi facciali-bassa statura-atresia delle coane-disabilità intellettiva legata all'X limitata alle femmine","synonyms":["Sindrome dismorfismi facciali-bassa statura-atresia delle coane-disabilità intellettiva legata all'X limitata alle femmine"],"definition":"Si tratta di una malattia genetica rara da anomalie/dismorfismi congeniti multipli, caratterizzata da ritardo dello sviluppo globale, disabilità intellettiva e dismorfismi facciali (asimmetria del viso, fronte prominente, rime palpebrali corte, sella nasale infossata, filtro liscio e lungo, labbro superiore sottile e orecchie displastiche a basso impianto ruotate posteriormente). La malattia colpisce solo le femmine. Le pazienti possono presentare anche bassa statura, atresia delle coane, scoliosi, anomalie oculari, dentali e urogenitali congenite, cardiopatie, ipotonia, crisi epilettiche e anomalie strutturali del cervello."},"nl":{"name":"X-gebonden tot vrouwen beperkte faciale dysmorfie - kleine gestalte - choane atresie - intellectuele achterstand","synonyms":["X-gebonden faciale dysmorfie - kleine gestalte - choane atresie - intellectuele achterstand-syndroom beperkt tot vrouwen"],"definition":"Een zeldzaam, genetisch syndroom met multipele congenitale anomalieën/dysmorfie, gekarakteriseerd door algehele ontwikkelingsachterstand, intellectuele achterstand, en dysmorfe gelaatskenmerken (waaronder asymmetrie van aangezicht, prominent voorhoofd, korte ooglidspleten, lage neusbrug, glad en lang filtrum, dunne bovenlip, en laagstaande, naar achteren gedraaide, dysplastische oren), enkel bij vrouwen. Bijkomende manifestaties die werden gerapporteerd, zijn onder meer kleine gestalte, choanale atresie, scoliose, congenitale oculaire, dentale, cardiale, en urogenitale anomalieen, alsook hypotonie, insulten, en structurele afwijkingen van hersenen."},"pt":{"name":"Dismorfia facial-baixa estatura-atrésia das coanas-perturbação do desenvolvimento intelectual ligada ao X restrito ao feminino","synonyms":["Dismorfia facial ligada ao X-baixa estatura-atrésia das coanas-perturbação do desenvolvimento intelectual restrito ao feminino"]},"pl":{"name":"Dysmorfia twarzy-niski wzrost-atrezja nozdrzy-niepełnosprawność intelektualna sprzężona z chromosomem X występująca u kobiet","synonyms":["X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females"]},"cs":{"name":"X-vázaná mentální retardace s faciálním dysmorfismem, malým vzrůstem, choanální atrézií omezená na ženské pohlaví","synonyms":["X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females","Syndrom X-vázaného obličejového dysmorfismu, malého vzrůstu, choanální atrézie a mentálního postižení omezený na ženy"]},"uk":{"name":"Х-зчеплений жіночий обмежений дизморфізм обличчя-низькорослість-атрезія хоан-розумова відсталість","synonyms":["Х-зчеплений синдром дизморфізму обличчя - низького зросту - атрезії хоан - інтелектуальної недостатності, характерний лише для жінок"],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, and dysmorphic facial features (such as facial asymmetry, prominent forehead, short palpebral fissures, low nasal bridge, smooth and long philtrum, thin upper lip, and low-set, posteriorly rotated, dysplastic ears), exclusively affecting females. Additional reported manifestations include short stature, choanal atresia, scoliosis, congenital ocular, dental, cardiac, and urogenital anomalies, as well as hypotonia, seizures, and structural brain abnormalities, among others."},"zh":{"name":"X连锁-仅限于女性-面部畸形-身材矮小-鼻后孔闭锁-智力障碍","synonyms":["X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females"]},"tr":{"name":"X'e bağlı kadında görülen yüz dismorfizmi-kısa boy-koanal atrezi-zihinsel yetersizlik","synonyms":["X-bağlı fasiyal dismorfizmi-kısa boy-koanal atrezi-kadınlarla sınırlı zihinsel yetersizlik sendromu"]}},"xrefs":[{"source":"OMIM","code":"300968","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018821","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5567523","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13638","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":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":139021,"name":"Malformation syndrome with short stature","classifications":[147]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[],"genes":[{"symbol":"USP9X","name":"ubiquitin specific peptidase 9 X-linked","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26833328[PMID]","hgnc":"12632","ensembl":"ENSG00000124486","omim":"300072","loci":["Xp11.4"]}],"genes_via_subtypes":[],"inheritance":["X-linked dominant"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":17.0,"area":"Worldwide","status":"Validated","source":"26833328[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26833328[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-09-11","source":"28377321[PMID]_30828969[PMID]_24690944[PMID]_26833328[PMID]","terms":[{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002536","label":"Abnormal cortical gyration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000119","label":"Abnormality of the genitourinary system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000453","label":"Choanal atresia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001305","label":"Dandy-Walker malformation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007483","label":"Depigmentation/hyperpigmentation of skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100259","label":"Postaxial polydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030928","label":"1-minute APGAR score of 1","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030925","label":"5-minute APGAR score of 5","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031508","label":"Abnormal thyroid hormone level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004298","label":"Abnormality of the abdominal wall","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0410026","label":"Abnormality of the periodontium","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007360","label":"Aplasia/Hypoplasia of the cerebellum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000483","label":"Astigmatism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012444","label":"Brain atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001320","label":"Cerebellar vermis hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001374","label":"Congenital hip dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002212","label":"Curly hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004095","label":"Curved fingers","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100890","label":"Cyst of the ductus choledochus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002198","label":"Dilated fourth ventricle","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000454","label":"Flared nostrils","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000212","label":"Gingival overgrowth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001822","label":"Hallux valgus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005722","label":"Hyperextensible thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000540","label":"Hypermetropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000998","label":"Hypertrichosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002365","label":"Hypoplasia of the brainstem","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002557","label":"Hypoplastic nipples","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000341","label":"Narrow forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002664","label":"Neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001845","label":"Overlapping toe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010499","label":"Patellar subluxation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005272","label":"Prominent nasolabial fold","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000448","label":"Prominent nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200117","label":"Recurrent upper and lower respiratory tract infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000110","label":"Renal dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000960","label":"Sacral dimple","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001773","label":"Short foot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012745","label":"Short palpebral fissure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001238","label":"Slender finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200055","label":"Small hand","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001182","label":"Tapered finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012471","label":"Thick vermilion border","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002944","label":"Thoracolumbar scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000692","label":"Tooth malposition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012810","label":"Wide nasal base","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Occasional (29-5%)","criteria":null}]}}