{"orpha":261112,"name":"Monosomy 9p syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["9p deletion syndrome","9p- syndrome","Alfi syndrome"],"definition":"Monosomy 9p is a rare chromosomal anomaly characterized by psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-261112/","orphanet_url":"https://www.orpha.net/en/disease/detail/261112","names":{"fr":{"name":"Syndrome de monosomie 9p","synonyms":["Syndrome 9p-","Syndrome d'Alfi","Syndrome de délétion 9p"],"definition":"Anomalie chromosomique rare caractérisée par un retard de développement psychomoteur, une dysmorphie faciale (trigonocéphalie, hypoplasie de l'étage moyen de la face, fentes palpébrales inclinées vers le bas, petites oreilles dysplasiques, pont nasal plat, narines antéversées et philtrum long, micrognathie, atrésie choanale, un cou court), une artère ombilicale unique, une omphalocèle, une hernie inguinale ou ombilicale, des anomalies génitales (hypospadias, cryptorchidie), une hypotonie musculaire et une scoliose."},"de":{"name":"Monosomie 9p","synonyms":["9p-Syndrom","Alfi-Syndrom"],"definition":"Monosomie 9p ist eine seltene chromosomale Anomalie, die durch psychomotorische Entwicklungsverzögerung, Gesichtsdysmorphie (Trigonozephalie, Mittelgesichtshypoplasie, aufwärts gerichtete Palpebralspalten, dysplastische kleine Ohren flache Nasenbrücke mit antevertierten Nasenlöchern und langem Philtrum, Mikrognathie, Choanalatresie, kurzer Hals), singuläre Umbilikalarterie, Omphalozele, Leisten- oder Nabelbruch, Genitalanomalien (Hypospadie, Kryptorchismus), Muskelhypotonie und Skoliose gekennzeichnet ist."},"es":{"name":"Síndrome de monosomía 9p","synonyms":["Síndrome 9p-","Síndrome de Alfi","Síndrome de deleción 9p"],"definition":"Es una anomalía cromosómica poco frecuente caracterizada por retraso del desarrollo psicomotor, dismorfia facial (trigonocefalia, hipoplasia del tercio medio facial, fisuras palpebrales inclinadas hacia arriba, orejas pequeñas displásicas, puente nasal plano con fosas nasales antevertidas y surco nasolabial largo, micrognatia, atresia coanal, cuello corto), arteria umbilical única, onfalocele, hernia inguinal o umbilical, anomalías genitales (hipospadia, criptorquidia), hipotonía muscular y escoliosis."},"it":{"name":"Sindrome monosomia 9p","synonyms":["Sindrome delezione 9p","Sindrome 9p-","Sindrome di Alfi"],"definition":"La monosomia 9p è un'anomalia cromosomica rara, caratterizzata da ritardo dello sviluppo psicomotorio, dismorfismi facciali (trigonocefalia, ipoplasia medio-facciale, rime palpebrali oblique verso l'alto, orecchie piccole displastiche, sella nasale piatta con narici anteverse e filtro lungo, micrognazia, atresia delle coane, collo corto), arteria ombelicale unica, onfalocele, ernia inguinale o ombelicale, anomalie dei genitali (ipospadia, criptorchidismo), ipotonia muscolare e scoliosi."},"nl":{"name":"Monosomie 9p-syndroom","synonyms":["9p-deletiesyndroom","9p-syndroom","Syndroom van Alfi"],"definition":"Monosomie 9p is een zeldzame chromosomale anomalie die gekarakteriseerd wordt door psychomotorische ontwikkelingsachterstand, faciale dysmorfie (trigonocefalie, hypoplasie van het middengezicht, opwaarts hellende ooglidspleten, dysplastische kleine oren, platte neusbrug met anteversie van de neusgaten en lang filtrum, micrognathie, choane atresie, korte nek/hals), enkelvoudige navelslagader, omfalocèle, lies- of navelbreuk, genitale anomalieën (hypospadieën, cryptorchidie), musculaire hypotonie en scoliose."},"pt":{"name":"Monossomia 9p"},"pl":{"name":"Zespół monosomii 9p","synonyms":["Zespół 9p","Zespół Alfiego","Zespół delecji 9p"],"definition":"*Monosomia 9p jest rzadką aberracją chromosomową, która charakteryzuje się opóźnieniem rozwoju psychoruchowego, dysmorfią twarzy (trigonocefalia, niedorozwój środka twarzy, skośnie ku górze ustawione szpary powiekowe, dysplastyczne małe uszy, płaski grzbiet nosa z zadartymi nozdrzami i długą rynienką podnosową, mała żuchwa, atrezja nozdrzy tylnych, krótka szyja), występowaniem pojedynczej tętnicy pępkowej, wytrzewieniem, przepukliną pachwinową lub pępkową, nieprawidłowościami narządów płciowych (spodziectwo, wnętrostwo), hipotonią mięśniową i skoliozą."},"cs":{"name":"Monozomie 9p","synonyms":["9p-syndrom","Alfi syndrom","9p deleční syndrom"]},"uk":{"name":"Моносомія 9p","synonyms":["Синдром делеції 9p","9p-синдром","Синдром Альфі"],"definition":"Monosomy 9p is a rare chromosomal anomaly characterized by psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis."},"zh":{"name":"9号染色体短臂单体","synonyms":["9号染色体短臂缺失综合征"],"definition":"9P单体是一种罕见的染色体异常，其特征是精神运动发育迟缓、面部畸形(三角头畸形、面中部发育不良、眼裂上斜、发育不良的小耳朵、鼻梁扁平伴鼻孔前倾和长人中、小颌畸形、后鼻孔闭锁、短颈)、单脐动脉、脐膨出、腹股沟或脐疝、生殖器异常(尿道下裂、隐睾)、肌张力低下和脊柱侧凸。"},"tr":{"name":"Monozomi 9p","synonyms":["9p- sendromu","Alfi sendromu","9p delesyon sendromu"]}},"xrefs":[{"source":"OMIM","code":"158170","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.91","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"528972760"},{"source":"MONDO","code":"0008013","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538024","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0795830","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3773","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":261929,"name":"Partial deletion of the short arm of chromosome 9 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0007477","label":"Abnormal dermatoglyphics","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009738","label":"Abnormality of the antihelix","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009892","label":"Anotia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","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:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002162","label":"Low posterior hairline","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009623","label":"Proximal placement of thumb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001816","label":"Thin nail","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000243","label":"Trigonocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000465","label":"Webbed neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006610","label":"Wide intermamillary distance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001850","label":"Abnormality of the tarsal bones","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000062","label":"Ambiguous genitalia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000925","label":"Abnormality of the vertebral column","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000413","label":"Atresia of the external auditory canal","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007598","label":"Bilateral single transverse palmar creases","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000453","label":"Choanal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000776","label":"Congenital diaphragmatic hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100790","label":"Hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001162","label":"Postaxial hand polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001362","label":"Skull defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000074","label":"Ureteropelvic junction obstruction","frequency":"Occasional (29-5%)","criteria":null}]}}