{"orpha":1642,"name":"Distal deletion 9p syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Distal monosomy 9p","Monosomy 9pter","Telomeric deletion 9p"],"definition":"Distal monosomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 9, with a highly variable phenotype typically characterized by intellectual disability, craniofacial dysmorphism (trigonocephaly, upslanting palpebral fissures, hypoplastic supraorbital ridges), abnormal digits (long middle phalanges with short distal phalanges), as well as frequent association with genitourinary abnormalities (cryptorchidism, hypospadias, ambiguous genitalia, 46,XY testicular dysgenesis). Congenital hypothyroidism and cardiovascular defects have been reported in some cases. Patients present an increased risk for gonadoblastoma.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1642/","orphanet_url":"https://www.orpha.net/en/disease/detail/1642","names":{"fr":{"name":"Syndrome de délétion distale 9p","synonyms":["Délétion 9pter","Délétion télomérique 9p","Monosomie 9pter","Monosomie distale 9p"],"definition":"Un syndrome rare d'anomalie chromosomique causé par la délétion partielle du bras court du chromosome 9. Le phénotype est très variable et se caractérise classiquement par un déficit intellectuel, une dysmorphie craniofaciale (trigonocéphalie, fentes palpébrales obliques en haut et en dehors, crêtes supra-orbitaires hypoplasiques) et des anomalies digitales (longues phalanges médianes avec des phalanges distales courtes). Des anomalies génito-urinaires (cryptorchidie, hypospadias, organes génitaux ambigus, dysgénésie testiculaire 46,XY) sont très souvent associées. Une hypothyroïdie congénitale et des anomalies cardiovasculaires ont été rapportées dans certains cas. Les patients présentent un risque accru de développer un gonadoblastome."},"de":{"name":"Distale Deletion 9p","synonyms":["Distale Monosomie 9p","Monosomie 9pter","Telomere Deletion 9p"],"definition":"Distale Monosomie 9p ist eine seltene Chromosomenanomalie, die aus einer partiellen Deletion des kurzen Arms von Chromosom 9 resultiert und einen sehr variablen Phänotyp aufweist. Typischerweise manifestiert sich das Syndrom durch Intelligenzminderung, kraniofaziale Dysmorphien (Trigonozephalie, Trigonozephalie, schräg verlaufende Lidspalten, hypoplastische supraorbitale Grate), abnormale Zehen (lange mittlere Phalangen mit kurzen distalen Phalangen) sowie eine häufige Assoziation mit urogenitalen Anomalien (Kryptorchismus, Hypospadie, uneindeutige Genitalien, 46,XY-Hoden-Dysgenesie). In einigen Fällen wurde über eine kongenitale Hypothyreose und kardiovaskuläre Defekte berichtet. Die Patienten weisen ein erhöhtes Risiko für ein Gonadoblastom auf."},"es":{"name":"Síndrome de deleción terminal 9p","synonyms":["Monosomía 9pter","Monosomía terminal 9p"],"definition":"La monosomía distal 9p es una anomalía cromosomica poco frecuente, resultante de una deleción parcial del brazo corto del cromosoma 9. Presenta un fenotipo muy variable caracterizado típicamente por discapacidad intelectual, dismorfia craneofacial (trigonocefalia, fisuras palpebrales inclinadas hacia arriba, crestas supraorbitales hipoplásicas), dedos anómalos (falanges medias largas con falanges distales cortas), así como asociación frecuente con anomalías genitourinarias (criptorquidia, hipospadias, genitales ambiguos, disgenesia testicular 46, XY). En algunos casos se ha notificado hipotiroidismo congénito y defectos cardiovasculares. Los afectados presentan un mayor riesgo de gonadoblastoma."},"it":{"name":"Sindrome delezione 9p distale","synonyms":["Delezione 9p telomerica","Monosomia 9p distale","Monosomia 9pter"],"definition":"La monosomia 9p distale è un'anomalia cromosomica rara, causata dalla delezione parziale del braccio corto del cromosoma 9. Il quadro clinico è molto variabile e di solito è caratterizzato da disabilità intellettiva, dismorfismi craniofacciali (trigonocefalia, rime palpebrali oblique verso l'alto, ipoplasia delle arcate sopraorbitali), anomalie delle dita (allungamento delle falangi medie con accorciamento delle falangi distali), spesso associate ad anomalie dell'apparato genito-urinario (criptorchidismo, ipospadia, genitali ambigui, disgenesia testicolare 46,XY). Alcuni pazienti presentano ipotiroidismo congenito e cardiopatie. Si associa un rischio aumentato di sviluppare un gonadoblastoma."},"nl":{"name":"Distale deletie 9p-syndroom","synonyms":["Distale monosomie 9p","Monosomie 9pter","Telomerische deletie 9p"],"definition":"Distale monosomie 9p is een zeldzaam syndroom met een chromosomale anomalie als gevolg van een partiële deletie van de korte arm van chromosoom 9, met een hoogst variabel fenotype dat typisch gekarakteriseerd wordt door intellectuele achterstand, craniofaciale dysmorfie (trigonocefalie, opwaartse ooglidspleten, hypoplastische supraorbitale randen), abnormale vingers/tenen (lange middelste falangen met korte distale falangen), alsook frequente associatie met genito-urinaire afwijkingen (cryptorchidie, hypospadieën, ambigue genitaliën, 46,XY testiculaire dysgenesie). In enkele gevallen werden congenitale hypothyreoïdie en cardiovasculaire defecten gerapporteerd. Patiënten vertonen een verhoogd risico op gonadoblastoom."},"pt":{"name":"Deleção distal 9p","synonyms":["Deleção telomérica 9p","Monossomia 9pter","Monossomia distal 9p"]},"pl":{"name":"Zespół delecji dystalnej 9p","synonyms":["Dystalna delecja 9p","Monosomia 9pter"]},"cs":{"name":"Distální monozomie 9p","synonyms":["Distální delece 9p","Monozomie 9pter","Telomerická delece 9p"]},"uk":{"name":"Дистальна делеція 9p","synonyms":["Дистальна моносомія 9p","Моносомія 9pter","Делеція теломерної ділянки 9p"],"definition":"Distal monosomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 9, with a highly variable phenotype typically characterized by intellectual disability, craniofacial dysmorphism (trigonocephaly, upslanting palpebral fissures, hypoplastic supraorbital ridges), abnormal digits (long middle phalanges with short distal phalanges), as well as frequent association with genitourinary abnormalities (cryptorchidism, hypospadias, ambiguous genitalia, 46,XY testicular dysgenesis). Congenital hypothyroidism and cardiovascular defects have been reported in some cases. Patients present an increased risk for gonadoblastoma."},"zh":{"name":"9号染色体短臂远端单倍体","synonyms":["9号染色体短臂远端单倍体"]},"tr":{"name":"Distal monozomi 9p","synonyms":["Monozomi 9pter","Distal delesyon 9p","Telomerik delesyon 9p"]}},"xrefs":[{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0015605","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538025","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265425","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]},{"orpha":98087,"name":"Syndrome with 46,XY difference of sex development","classifications":[147,156,185,193]},{"orpha":325638,"name":"Syndrome with difference of sex development of gynecological interest","classifications":[156,205]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":89.0,"area":"Worldwide","status":"Validated","source":"23824832[PMID]_24330994[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23824832[PMID]_24330994[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0009738","label":"Abnormality of the antihelix","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000243","label":"Trigonocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011039","label":"Abnormal helix morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009906","label":"Aplasia/Hypoplasia of the earlobes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100625","label":"Enlarged thorax","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100790","label":"Hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000059","label":"Hypoplastic labia majora","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006610","label":"Wide intermamillary distance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null}]}}