{"orpha":2044,"name":"Floating-Harbor syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A multiple congenital anomalies/dysmorphic syndrome-intellectual disability that is characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2044/","orphanet_url":"https://www.orpha.net/en/disease/detail/2044","names":{"fr":{"name":"Syndrome de Floating-Harbor","definition":"Anomalies congénitales multiples-déficience intellectuelle/syndrome dysmorphique caractérisé par une dysmorphie faciale, une petite taille avec retard de l'âge osseux et un retard de langage."},"de":{"name":"Floating-Harbor-Syndrom","definition":"Ein Syndrom mit multiplen kongenitalen Anomalien/Dysmorphien und Intelligenzminderung, das durch Gesichtsdysmorphien, Kleinwuchs mit verzögertem Knochenalter und verzögerte Entwicklung der sprachlichen Ausdrucksfähigkeit gekennzeichnet ist."},"es":{"name":"Síndrome de Floating-Harbor","definition":"Es un síndrome dismórfico/ de anomalías congénitas múltiples asociado a discapacidad intelectual caracterizado por dismorfia facial, talla baja con retraso de la edad ósea y del lenguage expresivo."},"it":{"name":"Sindrome di Floating-Harbor","definition":"La sindrome Floating-Harbor è una malattia rara da anomalie/dismorfismi congeniti multipli e disabilità intellettiva, caratterizzata da dismorfismi facciali, bassa statura associata a ritardo dell'età ossea e del linguaggio espressivo."},"nl":{"name":"Floating-Harbor-syndroom","synonyms":["Syndroom van Leisti-Hollister-Rimoin"],"definition":"Een meervoudige congenitale anomalieën/dysmorfie-syndroom - intellectuele beperking, gekarakteriseerd door faciale dysmorfie, kleine gestalte met vertraagde botmaturatie, en expressieve taalachterstand."},"pt":{"name":"Síndrome Floating-Harbor","synonyms":["Síndrome Leisti-Hollister-Rimoin"]},"pl":{"name":"Zespół Floating i Harbour"},"cs":{"name":"Syndrom Floating Harbor"},"uk":{"name":"Синдром Флоутинг-Харбора","definition":"A multiple congenital anomalies/dysmorphic syndrome-intellectual disability that is characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay."},"zh":{"name":"Floating-Harbor综合征"},"tr":{"name":"Floating-Harbor sendromu"}},"xrefs":[{"source":"OMIM","code":"136140","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2101730645"},{"source":"MONDO","code":"0007621","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537062","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0729582","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6455","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10079943","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183570,"name":"Genetic malformation syndrome with short stature","classifications":[156]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":139021,"name":"Malformation syndrome with short stature","classifications":[147]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[],"genes":[{"symbol":"SRCAP","name":"Snf2 related CREBBP activator protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22965468[PMID]","hgnc":"16974","ensembl":"ENSG00000080603","omim":"611421","loci":["16p11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_30425916[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-04-16","source":"31715605[PMID]_23193612[PMID]","terms":[{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011098","label":"Speech apraxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000914","label":"Shield chest","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000325","label":"Triangular face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000878","label":"11 pairs of ribs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025160","label":"Abnormal temper tantrums","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001620","label":"Abnormally high-pitched voice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005743","label":"Avascular necrosis of the capital femoral epiphysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011300","label":"Broad fingertip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000455","label":"Broad nasal tip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002136","label":"Broad-based gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030084","label":"Clinodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000722","label":"Compulsive behaviors","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010957","label":"Congenital posterior urethral valve","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010946","label":"Dilatation of the renal pelvis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003083","label":"Dislocated radial head","frequency":"Occasional 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(29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100710","label":"Impulsivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003189","label":"Long nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009765","label":"Low hanging columella","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000691","label":"Microdontia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000446","label":"Narrow nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040288","label":"Nasogastric tube feeding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000121","label":"Nephrocalcinosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000677","label":"Oligodontia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006335","label":"Persistence of primary teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000826","label":"Precocious puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000104","label":"Renal agenesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000107","label":"Renal cyst","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000711","label":"Restlessness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000736","label":"Short attention span","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000894","label":"Short clavicles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010049","label":"Short metacarpal","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009778","label":"Short thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012871","label":"Varicocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000593","label":"Abnormal anterior chamber morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002608","label":"Celiac disease","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001680","label":"Coarctation of aorta","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008554","label":"Cochlear malformation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012538","label":"Gluten intolerance","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011599","label":"Mesocardia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005301","label":"Persistent left superior vena cava","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000113","label":"Polycystic kidney dysplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003774","label":"Stage 5 chronic kidney disease","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Very rare (<4-1%)","criteria":null}]}}