{"orpha":1708,"name":"Mosaic trisomy 16 syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Mosaic trisomy chromosome 16","Trisomy 16 mosaicism"],"definition":"Mosaic trisomy 16 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from minor anomalies with normal development to intrauterine growth retardation, abnormal skin pigmentation, craniofacial and body asymmetry, cardiac (e.g. ventricular septal defect) and genital (e.g. hypospadias, cryptorchidism) anomalies, scoliosis and hearing loss to neonatal death. Additional features observed include skeletal malformations (e.g. clino/polydactyly, talipes), mild facial dysmorphism, and developmental delay.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1708/","orphanet_url":"https://www.orpha.net/en/disease/detail/1708","names":{"fr":{"name":"Syndrome de trisomie 16 en mosaïque","definition":"Un syndrome rare d'anomalie chromosomique, de phénotype variable, allant d'une présentation avec des anomalies mineures et un développement normal, à une présentation intermédiaire avec un retard de croissance intra-utérin, une anomalie de la pigmentation cutanée, une asymétrie craniofaciale et corporelle, des anomalies cardiaques (comme une communication interventriculaire) et génitales (comme un hypospadias, une cryptorchidie), une scoliose et une perte auditive, à finalement, une présentation avec un décès néonatal. Les signes additionnels observés incluent des malformations squelettiques (comme une clino-/polydactylie, des talipes), une légère dysmorphie faciale et un retard de développement."},"de":{"name":"Mosaik-Trisomie 16","synonyms":["Mosaik-Trisomie Chromosom 16"],"definition":"Die Mosaik-Trisomie 16 ist eine seltene Chromosomenanomalie mit einem sehr variablen Phänotyp, dessen Spektrum von geringfügigen Anomalien mit normaler Entwicklung über intrauterine Wachstumsretardierung, abnorme Hautpigmentierung, kraniofaziale und körperliche Asymmetrie, kardiale (z.B. Ventrikelseptumdefekt) und genitale (z.B. Hypospadie, Kryptorchismus) Anomalien, Skoliose und Schwerhörigkeit bis hin zum neonatalen Tod reicht. Zusätzlich werden Skelettfehlbildungen (z. B. Klino-/Polydaktylie, Talipes), leichte Gesichtsdysmorphien und Entwicklungsverzögerungen beobachtet."},"es":{"name":"Síndrome de trisomía 16 en mosaico","synonyms":["Trisomía del cromosoma 16 en mosaico"],"definition":"La trisomía 16 en mosaico es un síndrome por anomalía cromosómica poco frecuente, con un fenotipo muy variable que va desde anomalías menores con desarrollo normal hasta retraso del crecimiento intrauterino, pigmentación cutánea anómala, asimetría craneofacial y corporal, anomalías cardiacas (por ejemplo, defecto septal ventricular) y genitales (p. ej., hipospadias, criptorquidia), escoliosis y pérdida auditiva e incluso fallecimiento neonatal. También, se han observado otras características adicionales que incluyen malformaciones esqueléticas (por ejemplo, clino/polidactilia, talipes), dismorfia facial leve y retraso del desarrollo."},"it":{"name":"Sindrome trisomia 16 in mosaico","synonyms":["Trisomia 16 in mosaico","Trisomia del cromosoma 16 in mosaico"],"definition":"La trisomia 16 in mosaico è un'anomalia cromosomica rara; il quadro clinico è molto variabile e comprende anomalie lievi con sviluppo normale, fino a forme di ritardo della crescita prenatale, anomalie della pigmentazione cutanea, asimmetria craniofacciale e del corpo, cardiopatie (difetto del setto interventricolare), anomalie dei genitali (ipospadia, criptorchidismo), scoliosi e sordità, e decesso nel periodo neonatale. Altri possibili segni clinici sono i difetti dello scheletro (clinodattilia/polidattilia, piede talo), i lievi dismorfismi facciali e il ritardo dello sviluppo."},"nl":{"name":"Mozaïektrisomie 16-syndroom","synonyms":["Mozaïektrisomie chromosoom 16","Trisomie 16 mozaïcisme"],"definition":"Mozaïektrisomie 16 is een zeldzaam syndroom met een chromosomale anomalie, en met een zeer variabel fenotype gaande van geringe anomalieën met normale ontwikkeling tot intra-uteriene groeiretardatie, abnormale huidpigmentatie, craniofaciale en lichaamsasymmetrie, cardiale (e.g. ventrikelseptumdefect) en genitale (e.g. hypospadieën, cryptorchidie) anomalieën, scoliose en gehoorverlies tot neonataal overlijden. Bijkomende kenmerken die worden waargenomen, zijn onder meer skeletmalformaties (e.g. clino-/polydactylie, talipes), milde faciale dysmorfie, en ontwikkelingsachterstand."},"pt":{"name":"Trissomia 16 em mosaico"},"pl":{"name":"Zespół mozaikowej trisomii chromosomu 16","synonyms":["Mosaic trisomy chromosome 16","Trisomy 16 mosaicism"]},"cs":{"name":"Mozaiková forma trizomie 16","synonyms":["Mosaic trisomy chromosome 16","Trisomy 16 mosaicism"]},"uk":{"name":"Мозаїчна трисомія 16","synonyms":["Мозаїчна трисомія хромосоми 16","Трисомія 16 мозаїчність"],"definition":"Mosaic trisomy 16 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from minor anomalies with normal development to intrauterine growth retardation, abnormal skin pigmentation, craniofacial and body asymmetry, cardiac (e.g. ventricular septal defect) and genital (e.g. hypospadias, cryptorchidism) anomalies, scoliosis and hearing loss to neonatal death. Additional features observed include skeletal malformations (e.g. clino/polydactyly, talipes), mild facial dysmorphism, and developmental delay."},"zh":{"name":"16号染色体嵌合三倍体","synonyms":["嵌合16号染色体三体"]},"tr":{"name":"Mozaik trizomi 16","synonyms":["Trizomi 16 mozaisizmi","Mozaik trizomi kromozomu 16"]}},"xrefs":[{"source":"ICD-10","code":"Q92.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD40.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0015729","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707009","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98131,"name":"Total autosomal trisomy 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":"ORPHANET"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":226.0,"area":"Worldwide","status":"Validated","source":"16557642[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-12-04","source":"12624135[PMID]_28383546[PMID]_9880211[PMID]","terms":[{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100602","label":"Preeclampsia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000765","label":"Abnormal thorax morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011024","label":"Abnormality of the gastrointestinal tract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000119","label":"Abnormality of the genitourinary system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100555","label":"Asymmetric growth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030084","label":"Clinodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004484","label":"Craniofacial asymmetry","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011471","label":"Gastrostomy tube feeding in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000085","label":"Horseshoe kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006267","label":"Large placenta","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009800","label":"Maternal diabetes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002011","label":"Morphological central nervous system abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002089","label":"Pulmonary hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001195","label":"Single umbilical artery","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001159","label":"Syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031703","label":"Abnormal ear morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012372","label":"Abnormal eye morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002088","label":"Abnormal lung morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003319","label":"Abnormality of the cervical spine","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000366","label":"Abnormality of the nose","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001545","label":"Anteriorly placed anus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001680","label":"Coarctation of aorta","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002245","label":"Meckel diverticulum","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011470","label":"Nasogastric tube feeding in infancy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005587","label":"Profuse pigmented skin lesions","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100864","label":"Short femoral neck","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005773","label":"Short forearm","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0009778","label":"Short thumb","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011640","label":"Single coronary artery origin","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000954","label":"Single transverse palmar crease","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Very rare (<4-1%)","criteria":null}]}}