{"orpha":1636,"name":"Distal monosomy 7q36 syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Distal deletion 7q36","Monosomy 7qter","Telomeric deletion 7q36"],"definition":"Distal monosomy 7q36 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 7, with a highly variable phenotype typically characterized by holoprosencephaly, growth restriction, developmental delay, facial dysmorphism (facial clefts, prominent forehead, hypertelorism, low-set ears, flat and broad nasal bridge, large mouth), abnormal fingers and palm or sole creases, ocular abnormalities, and other congenital malformations (incl. genital anomalies and caudal deficiency sequence). Cardiopathies have been occasionally reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1636/","orphanet_url":"https://www.orpha.net/en/disease/detail/1636","names":{"fr":{"name":"Syndrome de monosomie distale 7q36","synonyms":["Délétion distale 7q36","Délétion télomérique 7q36","Monosomie 7qter"],"definition":"Un syndrome d'anomalie chromosomique rare causé par une délétion partielle au niveau du bras long du chromosome 7. Le phénotype est très variable et se caractérise habituellement par une holoprosencéphalie, un retard de croissance, un retard de développement, une dysmorphie faciale (fentes faciales, front proéminent, hypertélorisme, oreilles basses implantées, pont nasal large et plat, large bouche), des doigts et des sillons palmaires ou plantaires anormaux, des anomalies oculaires et d'autres malformations congénitales (incluant des anomalies génitales et une séquence de régression caudale). Des cardiopathies ont parfois été rapportées."},"de":{"name":"Distale Monosomie 7q36","synonyms":["Distale Deletion 7q36","Monosomie 7qter","Telomere Deletion 7q36"],"definition":"Die distale Monosomie 7q36 ist eine seltene Chromosomenanomalie, die aus einer partiellen Deletion des langen Arms von Chromosom 7 resultiert. Sie zeigt einen sehr variablen Phänotyp, der typischerweise durch Holoprosenzephalie, Wachstumsrestriktion, Entwicklungsverzögerung, Gesichtsdysmorphie (Gesichtsspalten, prominente Stirn, Hypertelorismus, tief angesetzte Ohren, flacher und breiter Nasenrücken, großer Mund), abnorme Finger und Handflächen- oder Fußsohlenfalten, Augenanomalien und andere kongenitale Fehlbildungen (incl. genitale Anomalien und kaudale Regressionssequenz) gekennzeichnet ist. Auch Kardiopathien wurden gelegentlich beobachtet."},"es":{"name":"Síndrome de monosomía terminal 7q36","synonyms":["Deleción terminal 7q36","Monosomía 7qter"],"definition":"La monosomía distal 7q36 es una anomalía cromosómica poco frecuente, resultante de una deleción parcial del brazo largo del cromosoma 7. Presenta un fenotipo muy variable caracterizado típicamente por holoprosencefalia, restricción del crecimiento y del desarrollo, dismorfia facial (hendiduras faciales, frente prominente, hipertelorismo, orejas de baja implantación, puente nasal plano y ancho, boca grande), anomalías en los pliegues de los dedos de las manos y de palmas y plantas, anomalías oculares y otras malformaciones congénitas (incl. anomalías genitales y secuencia de regresión caudal). Ocasionalmente se han notificado cardiopatías."},"it":{"name":"Sindrome monosomia 7q36 distale","synonyms":["Delezione 7q36 distale","Delezione 7q36 telomerica","Monosomia 7qter"],"definition":"La monosomia 7q36 distale è un'anomalia cromosomica rara, causata dalla delezione parziale del braccio lungo del cromosoma 7. Il quadro clinico è variabile, di solito caratterizzato da oloprosencefalia, ritardo della crescita e dello sviluppo, dismorfismi facciali (schisi facciali, fronte prominente, ipertelorismo, orecchie a basso impianto, sella nasale larga e piatta, bocca grande), alterazioni delle dita e della plicatura del palmo delle mani e della pianta dei piedi, anomalie oculari e altre malformazioni congenite (anomalie dei genitali e sequenza da regressione caudale). Le cardiopatie sono poco comuni."},"nl":{"name":"Distale monosomie 7q36-syndroom","synonyms":["Distale deletie 7q36","Monosomie 7qter","Telomerische deletie 7q36"],"definition":"Distale monosomie 7q36 is een zeldzaam syndroom met een chromosomale anomalie als gevolg van een partiële deletie van de lange arm van chromosoom 7, met een hoogst variabel fenotype dat typisch gekarakteriseerd wordt door holoprosencefalie, groeibeperking, ontwikkelingsachterstand, faciale dysmorfie (gespleten verhemelte, uitgesproken voorhoofd, hypertelorisme, laagstaande oren, platte en brede neusbrug, grote mond), abnormale vingers en lijnen van de handpalmen of voetzolen, oculaire afwijkingen, en andere congenitale malformaties (incl. genitale anomalieën en caudale deficiëntie sequentie). Soms worden cardiopathieën gerapporteerd."},"pt":{"name":"Monossomia distal 7q36","synonyms":["Deleção distal 7q36"]},"pl":{"name":"Zespół monosomii dystalnej 7q36","synonyms":["Dystalna delecja 7q36","Monosomia 7qter","Telomerowa delecja 7q36"]},"cs":{"name":"Distální monozomie 7q36","synonyms":["Distální delece 7q36","Monozomie 7qter","Telomerická delece 7q36"]},"uk":{"name":"Дистальна моносомія 7q36","synonyms":["Дистальна делеція 7q36","Моносомія 7qter","Делеція теломерної ділянки 7q36"],"definition":"Distal monosomy 7q36 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 7, with a highly variable phenotype typically characterized by holoprosencephaly, growth restriction, developmental delay, facial dysmorphism (facial clefts, prominent forehead, hypertelorism, low-set ears, flat and broad nasal bridge, large mouth), abnormal fingers and palm or sole creases, ocular abnormalities, and other congenital malformations (incl. genital anomalies and caudal deficiency sequence). Cardiopathies have been occasionally reported."},"zh":{"name":"7q36远端单倍体","synonyms":["7q36远端单倍体"]},"tr":{"name":"Distal monozomi 7q36","synonyms":["Monozomi 7qter","Distal delesyon 7q36","Telomerik delesyon 7q36"]}},"xrefs":[{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.70","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"135476363"},{"source":"MONDO","code":"0015580","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706504","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262056,"name":"Partial deletion of the long arm of chromosome 7 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"15844773[PMID]_10521829[PMID]_39624702[PMID]_38847723[PMID]_ORPHANET"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":30.0,"area":"Worldwide","status":"Validated","source":"15844773[PMID]_10521829[PMID]_39624702[PMID]_38847723[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0010978","label":"Abnormality of immune system physiology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002683","label":"Abnormality of the calvaria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007598","label":"Bilateral single transverse palmar creases","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012368","label":"Flat face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006889","label":"Intellectual disability, borderline","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100729","label":"Large face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001360","label":"Holoprosencephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100335","label":"Non-midline cleft of the upper lip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100790","label":"Hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009773","label":"Symphalangism affecting the phalanges of the hand","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006610","label":"Wide intermamillary distance","frequency":"Occasional (29-5%)","criteria":null}]}}