{"orpha":48652,"name":"Phelan-McDermid syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic neurodevelopmental disorder characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-48652/","orphanet_url":"https://www.orpha.net/en/disease/detail/48652","names":{"fr":{"name":"Syndrome de Phelan-McDermid","definition":"Maladie génétique rare du développement neurologique caractérisée par une hypotonie néonatale, un retard global de développement, une croissance normale à accélérée, une absence de langage ou un retard sévère, et une légère dysmorphie."},"de":{"name":"Phelan-McDermid-Syndrom","synonyms":["Deletion 22q13.3","Monosomie 22q13"],"definition":"Eine seltene genetisch bedingte neurologische Entwicklungsstörung, die durch neonatale Hypotonie, globale Entwicklungsverzögerung, normales bis beschleunigtes Wachstum, fehlendes bis stark verzögertes Sprechen und leichte dysmorphe Merkmale gekennzeichnet ist."},"es":{"name":"Síndrome de Phelan-McDermid","definition":"Es un trastorno genético poco frecuente del neurodesarrollo caracterizado por hipotonía neonatal, retraso global del desarrollo, crecimiento normal a acelerado, ausencia o grave retraso de la adquisición del habla y características dismórficas menores."},"it":{"name":"Sindrome di Phelan-McDermid"},"nl":{"name":"Syndroom van Phelan-McDermid","definition":"Een zeldzame genetische neurologische ontwikkelingsstoornis, gekenmerkt door neonatale hypotonie, algehele ontwikkelingsachterstand, normale tot versnelde groei, afwezige tot ernstig vertraagde spraak, en geringe dysmorfe kenmerken."},"pt":{"name":"Síndrome Phelan-McDermid","definition":"Doença neurológica genética rara caracterizada por hipotonia neonatal, atraso global do desenvolvimento, crescimento normal a acelerado, fala ausente ou gravemente atrasada e características dismórficas menores."},"pl":{"name":"Monosomia 22q13","synonyms":["Delecja 22q13","Zespół Phelan i McDermid"]},"cs":{"name":"Phelan-McDermidové syndrom","synonyms":["Phelanové-McDermidové syndrom"]},"uk":{"name":"Синдром Фелана-Макдерміда","definition":"Monosomy 22q13.3 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features."},"zh":{"name":"22q13.3单体","synonyms":["Phelan-McDermid综合征"]},"tr":{"name":"Monozomi 22q13.3","synonyms":["22q13.3 delesyon","Phelan-McDermid sendromu"]}},"xrefs":[{"source":"OMIM","code":"606232","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.NY","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1667492731"},{"source":"MONDO","code":"11652","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536801","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10130","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10082417","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":568047,"name":"Disorder with multisystemic involvement and primary lymphedema","classifications":[147,156,187,198]},{"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":[{"orpha":662169,"name":"Phelan-McDermid syndrome due to 22q13.3 deletion","type":"Etiological subtype"},{"orpha":662172,"name":"Phelan-McDermid syndrome due to SHANK3 mutation","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"SHANK3","name":"SH3 and multiple ankyrin repeat domains 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"30537371[PMID]_20385823[PMID]","hgnc":"14294","ensembl":"ENSG00000251322","omim":"606230","loci":["22q13.33"],"via":{"orpha":662172,"name":"Phelan-McDermid syndrome due to SHANK3 mutation"}},{"symbol":"SHANK3","name":"SH3 and multiple ankyrin repeat domains 3","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"21841781[PMID]","hgnc":"14294","ensembl":"ENSG00000251322","omim":"606230","loci":["22q13.33"],"via":{"orpha":662169,"name":"Phelan-McDermid syndrome due to 22q13.3 deletion"}}],"inheritance":["Not applicable","Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":200.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"20301377[PMID]","terms":[{"hpo":"HP:0005616","label":"Accelerated skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003763","label":"Bruxism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001800","label":"Hypoplastic toenails","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007328","label":"Impaired pain sensation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000966","label":"Hypohidrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002721","label":"Immunodeficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001176","label":"Large hands","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000527","label":"Long eyelashes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100540","label":"Palpebral edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000307","label":"Pointed chin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000960","label":"Sacral dimple","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100702","label":"Arachnoid cyst","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008278","label":"Cerebellar cortical atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000678","label":"Dental crowding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000689","label":"Dental malocclusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012167","label":"Hair-pulling","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000540","label":"Hypermetropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001004","label":"Lymphedema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012787","label":"Recurrent pyelonephritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001581","label":"Recurrent skin infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000110","label":"Renal dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Occasional (29-5%)","criteria":null}]}}