{"orpha":436003,"name":"Contractures-developmental delay-Pierre Robin syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["5q23 microdeletion syndrome"],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of Pierre Robin Sequence (congenital micrognathia and glossoptosis with airway obstruction and a U-shaped cleft of the soft palate) with joint contractures and developmental delay. Additional variable manifestations include talipes equinovarus, arachnodactyly, radioulnar synostosis, severe hip dysplasia, cardiac anomalies, facial dysmorphism such as crumpled ear helices, and ocular abnormalities, among others.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-436003/","orphanet_url":"https://www.orpha.net/en/disease/detail/436003","names":{"fr":{"name":"Syndrome de Pierre Robin-contractures-retard de développement","synonyms":["Syndrome de microdélétion 5q23"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique rare d'origine génétique caractérisé par l'association du syndrome de Pierre Robin (micrognathie congénitale et glossoptose avec obstruction des voies respiratoires et fente en U du palais mou), des contractures articulaires et un retard de développement. Les autres signes cliniques variables sont le pied bot, l'arachnodactylie, la synostose radio-ulnaire, la dysplasie sévère de la hanche, les anomalies cardiaques, une dysmorphie faciale incluant une malformation du pavillon de l'oreille et des anomalies oculaires."},"de":{"name":"Kontrakturen-Entwicklungsverzögerung-Pierre Robin-Syndrom","synonyms":["Mikrodeletionssyndrom 5q23"],"definition":"Ein seltenes genetisch bedingtes Dysmorphie-Syndrom, das durch die Assoziation der Pierre-Robin-Sequenz (angeborene Mikrognathie und Glossoptose mit Atemwegsobstruktion und U-förmiger Gaumenspalte) mit Gelenkkontrakturen und Entwicklungsverzögerung gekennzeichnet ist. Zu den weiteren variablen Erscheinungsformen gehören u. a. Klumpfüße, Arachnodaktylie, Radioulnarsynostose, schwere Hüftdysplasie, Herzanomalien, Gesichtsdysmorphien wie z. B. zerknitterte Ohrspiralen und Augenanomalien."},"es":{"name":"Síndrome de Pierre Robin-contracturas-retraso del desarrollo","synonyms":["Síndrome de microdeleción 5q23"],"definition":"Es un síndrome dismórfico/ de múltiples anomalías congénitas de base genética y poco frecuente caracterizado por la asociación de la secuencia de Pierre Robin (micrognatia congénita y glosoptosis con obstrucción de las vías respiratorias y una hendidura del paladar blando en ''U'') con contracturas articulares y retraso del desarrollo. Otras manifestaciones variables adicionales incluyen talipes equinovarus, aracnodactilia, sinostosis radiocubital, displasia grave de cadera, anomalías cardíacas, dismorfia facial incluyendo hélix plegados y anomalías oculares, entre otras."},"it":{"name":"Contratture-ritardo dello sviluppo-sindrome di Pierre Robin","synonyms":["Sindrome da microdelezione 5q23"],"definition":"Si tratta di una malattia genetica rara da anomalie/dismorfismi congeniti multipli, caratterizzata dalla sequenza di Pierre Robin (micrognazia congenita e glossoptosi con ostruzione delle vie aeree e schisi a forma di U del palato molle), contratture articolari e ritardo dello sviluppo. Altri segni clinici variabili sono i piedi equino-vari, l'aracnodattilia, la sinostosi radioulnare, la displasia grave dell'anca, le cardiopatie e i dismorfismi facciali (aumento della plicatura dell'elice e anomalie oculari)."},"nl":{"name":"Contracturen - ontwikkelingsachterstand - Pierre Robin-syndroom","synonyms":["5q23-microdeletiesyndroom"],"definition":"Een zeldzaam, genetisch syndroom met multipele congenitale anomalieën/dysmorfie, gekarakteriseerd door de associatie van Pierre Robin sequentie (congenitale micrognathie en glossoptose met obstructie van luchtwegen en een U-vormige spleet in zacht verhemelte) met gewrichtscontracturen en ontwikkelingsachterstand. Bijkomende variabele manifestaties zijn onder meer talipes equinovarus (klompvoet), arachnodactylie, radio-ulnaire synostose, ernstige dysplasie van heup, hartanomalieën, faciale dysmorfie zoals verfrommelde helix van oor, en ooganomalieën."},"pt":{"name":"Síndrome Pierre Robin-contraturas-perturbação do desenvolvimento"},"pl":{"name":"Zespół Pierre'a Robina, przykurczy i opóźnienia w rozwoju","synonyms":["Zespół mikrodelecji 5q23"]},"cs":{"name":"Kontraktury, opožděný vývoj a Pierre Robinův syndrom","synonyms":["Mikrodeleční syndrom 5q23"]},"uk":{"name":"Контрактури - затримка розвитку - синдром Пєра Робена","synonyms":["Синдром мікроделеції 5q23"],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of Pierre Robin Sequence (congenital micrognathia and glossoptosis with airway obstruction and a U-shaped cleft of the soft palate) with joint contractures and developmental delay. Additional variable manifestations include talipes equinovarus, arachnodactyly, radioulnar synostosis, severe hip dysplasia, cardiac anomalies, facial dysmorphism such as crumpled ear helices, and ocular abnormalities, among others."},"zh":{"name":"挛缩-发育迟缓-Pierre Robin综合征","synonyms":["5q23 微缺失综合征"]},"tr":{"name":"Kontraktürler-gelişme geriliği-Pierre Robin sendromu","synonyms":["5q23 mikrodelesyon sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018571","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680042","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":262038,"name":"Partial deletion of the long arm of chromosome 5 syndrome","classifications":[147,156]},{"orpha":138047,"name":"Pierre Robin syndrome associated with a chromosomal anomaly","classifications":[147,156,200,209]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"25195018[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25195018[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-11-10","source":"25195018[PMID]","terms":[{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001167","label":"Abnormality of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001166","label":"Arachnodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012430","label":"Cerebral white matter hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000162","label":"Glossoptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002870","label":"Obstructive sleep apnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000396","label":"Overfolded helix","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002974","label":"Radioulnar synostosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009778","label":"Short thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003396","label":"Syringomyelia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009929","label":"Abnormal columella morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025100","label":"Abnormal hippocampus morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002687","label":"Abnormality of the frontal sinuses","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007099","label":"Chiari type I malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007359","label":"Focal-onset seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000394","label":"Lop ear","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001840","label":"Metatarsus adductus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001845","label":"Overlapping toe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004969","label":"Peripheral pulmonary artery stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002944","label":"Thoracolumbar scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000430","label":"Underdeveloped nasal alae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001239","label":"Wrist flexion contracture","frequency":"Occasional (29-5%)","criteria":null}]}}