{"orpha":397612,"name":"Macrocephaly-developmental delay syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-397612/","orphanet_url":"https://www.orpha.net/en/disease/detail/397612","names":{"fr":{"name":"Syndrome de macrocéphalie-retard de développement","definition":"Le syndrome de macrocéphalie-retard de développement est un syndrome de déficit intellectuel rare caractérisé par une macrocéphalie, une légère dysmorphie faciale (bosse frontale, visage allongé, paupières tombantes avec de petites fentes palpébrales obliques en bas et en dehors, large pont nasal, menton proéminent), un retard neuro-développemental global, des troubles du comportement (par ex. anxiété, mouvements stéréotypés) et des crises d'absence ou des convulsions toniques-cloniques généralisées. Les signes additionnels rapportés chez certains patients incluent une craniosynostose, une clinodactylie du cinquième doigt, une pneumonie récurrente et une hépatosplénomégalie."},"de":{"name":"Makrozephalie-Entwicklungsverzögerung-Syndrom","definition":"Das Makrozephalie-Entwicklungsverzögerung-Syndrom ist ein seltenes Syndrom mit Intelligenzminderung, das durch Makrozephalie, milde dysmorphe Merkmale (prominente Stirn, langes Gesicht, Augenlider mit kleinen, nach unten gerichteten Lidspalten, breiten Nasenrücken und markantes Kinn), globale neurologische Entwicklungsverzögerung, Verhaltensanomalie (z.B. Angst, stereotype Bewegungen) und Absence-Epilepsie oder generalisierte tonisch-klonische Anfälle gekennzeichnet ist. Bei einigen Patienten wurden Kraniosynostose, Klinodaktylie der fünften Finger, rezidivierende Pneumonie und Hepatosplenomegalie als weitere Merkmale beschrieben."},"es":{"name":"Síndrome de macrocefalia-retraso del desarrollo","definition":"El síndrome de macrocefalia-retraso del desarrollo es un síndrome de discapacidad intelectual poco frecuente caracterizado por macrocefalia, rasgos dismórficos leves (prominencia frontal, rostro alargado, párpados caídos con fisuras palpebrales pequeñas inclinadas hacia abajo, puente nasal ancho y barbilla prominentes), retraso general del desarrollo neurológico, anomalías conductuales (p.ej. ansiedad, movimientos estereotipados) y ausencias o convulsiones tónico-clónicas generalizadas. Otros rasgos descritos en algunos afectados incluyen craneosinostosis, clinodactilia del quinto dedo de la mano, neumonía recurrente y hepatoesplenomegalia."},"it":{"name":"Sindrome macrocefalia-ritardo dello sviluppo","definition":"La sindrome macrocefalia-ritardo dello sviluppo è una malattia rara da disabilità intellettiva, caratterizzata da macrocefalia, dismorfismi facciali lievi (fronte prominente, viso allungato, palpebre cadenti con rime palpebrali piccole e oblique verso il basso, radice del naso allargata e mento prominente), ritardo dello sviluppo neurologico globale, disturbi del comportamento (ansia, movimenti stereotipati) e crisi epilettiche di assenza o tonico-cloniche generalizzate. Alcuni pazienti presentano inoltre craniosinostosi, clinodattilia del quinto dito, polmonite recidivante ed epatosplenomegalia."},"nl":{"name":"Macrocefalie - ontwikkelingsachterstand-syndroom","definition":"Macrocefalie - ontwikkelingsachterstand-syndroom is een zeldzaam syndroom met intellectuele stoornis dat gekarakteriseerd wordt door macrocefalie, milde dysmorfe kenmerken (bol voorhoofd, lang gelaat, overhangende oogleden met kleine, afhellende ooglidspleten, brede neusbrug, en uitgesproken kin), algemene neurologische ontwikkelingsachterstand, gedragsstoornissen (e.g. angst, stereotype bewegingen) en absence of gegeneraliseerde tonisch-clonische insulten. Bijkomende kenmerken die bij sommige patiënten werden gerapporteerd zijn onder meer craniosynostose, clinodactylie van de vijfde vinger, terugkerende pneumonie, en hepatosplenomegalie."},"pt":{"name":"Síndrome de macrocefalia-perturbação do desenvolvimento"},"pl":{"name":"Zespół makrocefalia -opóźnienie rozwoju"},"cs":{"name":"Syndrom zahrnující makrocefalii a opožděný vývoj"},"uk":{"name":"Синдром макроцефалії-затримки розвитку","definition":"Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly."},"zh":{"name":"小头畸形-发育迟缓综合征","definition":"巨头畸形-发育迟缓综合征是一种罕见的智力障碍综合征，其特征是巨头畸形、轻度畸形(额部隆起、长脸、眼睑下垂伴小下斜睑裂、鼻梁宽阔和下巴突出)、全面神经发育迟缓、行为异常(如焦虑、刻板动作)以及强直-阵挛发作的消失或全身性强直-阵挛发作。据报道一些患者的其他特征包括颅缝早闭、五指斜指畸形、反复肺炎和肝脾肿大。"},"tr":{"name":"Makrosefali-gelişme geriliği sendromu"}},"xrefs":[{"source":"OMIM","code":"615637","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q75.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014289","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706573","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":"KPTN","name":"kaptin, actin binding protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24239382[PMID]","hgnc":"6404","ensembl":"ENSG00000118162","omim":"615620","loci":["19q13.32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24239382[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":9.0,"area":"Worldwide","status":"Validated","source":"24239382[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-11-28","source":"25847626[PMID]_24239382[PMID]","terms":[{"hpo":"HP:0000733","label":"Abnormal repetitive mannerisms","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001963","label":"Abnormal speech discrimination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031936","label":"Delayed ability to walk","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010845","label":"EEG with generalized slow activity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000308","label":"Microretrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0045025","label":"Narrow palpebral fissure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100540","label":"Palpebral edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006532","label":"Recurrent pneumonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030799","label":"Scaphocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100716","label":"Self-injurious behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Occasional (29-5%)","criteria":null}]}}