{"orpha":439822,"name":"PDE4D haploinsufficiency syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"PDE4D haploinsufficiency syndrome is a rare syndromic intellectual disability characterized by developmental delay, intellectual disability, low body mass index, long arms, fingers and toes, prominent nose and small chin.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-439822/","orphanet_url":"https://www.orpha.net/en/disease/detail/439822","names":{"fr":{"name":"Syndrome par haploinsuffisance de PDE4D","definition":"Déficience intellectuelle syndromique rare d'origine génétique caractérisée par un retard de développement, une déficience intellectuelle, un faible indice de masse corporelle, des bras, des doigts et des orteils longs, un nez proéminent et un petit menton."},"de":{"name":"PDE4D-Haploinsuffizienz-Syndrom"},"es":{"name":"Síndrome por haploinsuficiencia de PDE4D","definition":"El síndrome por haploinsuficiencia de <i> PDE4D </i>, es una discapacidad intelectual sindrómica poco frecuente caracterizada por retraso del desarrollo, discapacidad intelectual, bajo índice de masa corporal y brazos largos, así como dedos de las manos y pies largos, nariz prominente y mentón pequeño."},"it":{"name":"Sindrome da aploinsufficienza PDE4D","definition":"La sindrome da aploinsufficienza di PDE4D è una disabilità intellettiva sindromica rara, caratterizzata da ritardo dello sviluppo, disabilità intellettiva, basso indice di massa corporea, allungamento delle braccia e delle dita delle mani e dei piedi, naso prominente e mento piccolo."},"nl":{"name":"Syndroom door PDE4D-haploinsufficiëntie","definition":"PDE4D-haploinsufficiëntie-syndroom is een zeldzame, syndromale intellectuele invaliditeit die gekarakteriseerd wordt door ontwikkelingsachterstand, intellectuele achterstand, lage body mass index, lange armen, vingers en tenen, prominente neus en kleine kin."},"pt":{"name":"Síndrome de haploinsuficiência PDE4D"},"pl":{"name":"Zespół haplinsuficjencji PDE4D","definition":"*Zespół haploinsuficiencji PDE4D jest rzadkim zespołem z niepełnosprawnością intelektualną, który charakteryzuje się opóźnieniem rozwoju, niepełnosprawnością intelektualną, niskim wskaźnikiem masy ciała, długimi kończynami górnymi oraz palcami rąk i nóg, wydatnym nosem i małym podbródkiem."},"cs":{"name":"Syndrom PDE4D haploinsuficience"},"uk":{"name":"Синдром гаплонедостатності PDE4D","definition":"PDE4D haploinsufficiency syndrome is a rare syndromic intellectual disability characterized by developmental delay, intellectual disability, low body mass index, long arms, fingers and toes, prominent nose and small chin."},"zh":{"name":"PDE4D单倍剂量不足综合征","definition":"PDE4D单倍剂量不足综合征是一种罕见的综合征性智力障碍，其特征在于发育迟缓，智力障碍，体重指数低，手臂过/手指和脚趾过长，鼻子突出和小下巴。"},"tr":{"name":"PDE4D haployetmezlik sendromu"}},"xrefs":[{"source":"OMIM","code":"615668","qualifier":"ND","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014298","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681186","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]}],"children":[],"genes":[{"symbol":"PDE4D","name":"phosphodiesterase 4D","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24203977[PMID]","hgnc":"8783","ensembl":"ENSG00000113448","omim":"600129","loci":["5q11.2-q12.1"]}],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"24203977[PMID]_21594994[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24203977[PMID]_21594994[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-12-06","source":"24203977[PMID]_28515031[PMID]_30006632[PMID]_21594994[PMID]","terms":[{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001769","label":"Broad foot","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010055","label":"Broad hallux","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001230","label":"Broad metacarpals","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001783","label":"Broad metatarsal","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006009","label":"Broad phalanx","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012368","label":"Flat face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010049","label":"Short metacarpal","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010743","label":"Short metatarsal","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009803","label":"Short phalanx of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001831","label":"Short toe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005616","label":"Accelerated skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010579","label":"Cone-shaped epiphysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000327","label":"Hypoplasia of the maxilla","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000682","label":"Abnormality of dental enamel","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010665","label":"Bilateral coxa valga","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000283","label":"Broad face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008457","label":"Caudal interpedicular narrowing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003165","label":"Elevated circulating parathyroid hormone level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000565","label":"Esotropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000540","label":"Hypermetropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000601","label":"Hypotelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002615","label":"Hypotension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002516","label":"Increased intracranial pressure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003301","label":"Irregular vertebral endplates","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002003","label":"Large forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000637","label":"Long palpebral fissure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0045025","label":"Narrow palpebral fissure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005274","label":"Prominent nasal tip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000448","label":"Prominent nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005819","label":"Short middle phalanx of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002684","label":"Thickened calvaria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009824","label":"Upper limb undergrowth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Occasional (29-5%)","criteria":null}]}}