{"orpha":544488,"name":"Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Bachmann-Bupp syndrome","Ornithine decarboxylase deficiency"],"definition":"A rare disorder of ornithine metabolism characterized by global developmental delay, alopecia, macrocephaly, and dysmorphic facial features (including high and broad forehead, hypertelorism, ptosis, blepharophimosis, downslanting palpebral fissures, deep-set eyes, large ears, and retrognathia or high arched palate). Additional reported manifestations are sensorineural hearing loss, spasticity, hypotonia, hypoplastic nails, cryptorchidism, and clinodactyly, among others. Brain imaging may show white matter abnormalities, periventricular cysts, enlarged lateral ventricles, or prominent perivascular spaces.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-544488/","orphanet_url":"https://www.orpha.net/en/disease/detail/544488","names":{"fr":{"name":"Syndrome de retard global de développement-alopécie-macrocéphalie-dysmorphie faciale-anomalies cérébrales structurelles","synonyms":["Déficit en ornithine décarboxylase","Syndrome de Bachmann-Bupp"],"definition":"Trouble du métabolisme de l'ornithine caractérisé par un retard global du développement, une alopécie, une macrocéphalie et une dysmorphie faciale (notamment un front haut et large, un hypertélorisme, un ptosis, un blépharophimosis, des fentes palpébrales inclinées vers le bas, des yeux profondément situés dans les orbites, des oreilles larges et une rétrognathie ou un palais ogival). Les autres signes cliniques rapportées sont une perte auditive neurosensorielle, une spasticité, une hypotonie, une hypoplasie des ongles, une cryptorchidie et une clinodactylie. L'IRM peut révéler des anomalies de la substance blanche, des kystes périventriculaires, des ventricules latéraux élargis ou une dilatation des espaces périvasculaires."},"de":{"name":"Allgemeine Entwicklungsverzögerung-Alopezie-Makrozephalie-Gesichtsdysmorphie-strukturelle Hirnanomalien-Syndrom","synonyms":["Ornithin-Decarboxylase-Mangel"],"definition":"Eine seltene Störung des Ornithin-Stoffwechsels, die durch eine globale Entwicklungsverzögerung, Alopezie, Makrozephalie und dysmorphe Gesichtszüge gekennzeichnet ist (u. a. hohe und breite Stirn, Hypertelorismus, Ptosis, Blepharophimose, nach unten hängende Lidspalten, tiefliegende Augen, große Ohren und Retrognathie oder hochgewölbter Gaumen). Weitere gemeldete Manifestationen sind unter anderem Schallempfindungsschwerhörigkeit, Spastizität, Hypotonie, hypoplastische Nägel, Kryptorchismus und Klinodaktylie. Die Bildgebung des Gehirns kann Anomalien der weißen Substanz, periventrikuläre Zysten, vergrößerte Seitenventrikel oder ausgeprägte perivaskuläre Räume zeigen."},"es":{"name":"Síndrome de retraso global del desarrollo-alopecia-macrocefalia-dismorfia facial-anomalías estructurales cerebrales","synonyms":["Deficiencia de ornitina decarboxilasa"],"definition":"Es un trastorno poco frecuente del metabolismo de la ornitina caracterizado por retraso global del desarrollo, alopecia, macrocefalia y rasgos faciales dismórficos (incluyendo frente alta y amplia, hipertelorismo, ptosis, blefarofimosis, fisuras palpebrales descendentes, ojos hundidos, orejas grandes y retrognatia o paladar ojival). Otras manifestaciones descritas son hipoacusia neurosensorial, espasticidad, hipotonía, hipoplasia ungueal, criptorquidia y clinodactilia, entre otras. La neuroimagen puede mostrar alteraciones de la sustancia blanca, quistes periventriculares, dilatación de los ventrículos laterales o prominencia de los espacios perivasculares."},"it":{"name":"Sindrome ritardo dello sviluppo globale - alopecia - macrocefalia - dismorfismi facciali - anomalie strutturali del cervello","definition":"Si tratta di una malattia rara del metabolismo dell'ornitina, caratterizzata da ritardo dello sviluppo globale, alopecia, macrocefalia e dismorfismi facciali (fronte alta e ampia, ipertelorismo, ptosi, blefarofimosi, rime palpebrali oblique verso il basso, occhi infossati, orecchie grandi e retrognazia o palato ogivale). Altri segni clinici sono la sordità neurosensoriale, la spasticità, l'ipotonia, l'ipoplasia delle unghie, il criptorchidismo e la clinodattilia. Le neuroimmagini mostrano anomalie della sostanza bianca, cisti periventricolari, dilatazione dei ventricoli laterali o prominenza degli spazi perivascolari."},"nl":{"name":"Algehele ontwikkelingsachterstand - alopecie - macrocefalie - faciale dysmorfie - structurele hersenanomalieën-syndroom","synonyms":["Ornithinedecarboxylasedeficiëntie"],"definition":"Een zeldzame stoornis van metabolisme van ornithine, gekarakteriseerd door algehele ontwikkelingsachterstand, alopecie, macrocefalie, en dysmorfe gelaatskenmerken (waaronder hoog en breed voorhoofd, hypertelorisme, ptose, blefarofimose, schuin naar beneden hellende ooglidspleten, diepliggende ogen, grote oren, en retrognathie of hoog gebogen verhemelte). Bijkomende manifestaties die werden gerapporteerd, zijn onder meer sensorineuraal gehoorverlies, spasticiteit, hypotonie, hypoplastische nagels, cryptorchisme, en clinodactylie. Beeldvorming van hersenen toont mogelijk afwijkingen van witte stof, periventriculaire cysten, vergrote laterale ventrikels, of prominente perivasculaire ruimtes."},"pt":{"name":"Síndrome de perturbação global do desenvolvimento-alopecia-macrocefalia-dismorfia facial-anomalias cerebrais estruturais","synonyms":["Deficiência de ornitina descarboxilase","Síndrome Bachmann-Bupp"]},"pl":{"name":"Zespół całościowego opóźnienia rozwoju, łysienia, małogłowia, dysmorfii twarzy i wad strukturalnych mózgu","synonyms":["Zespół Bachmanna i Buppa","Ornithine decarboxylase deficiency"]},"cs":{"name":"Syndrom zahrnující celkové opoždění vývoje, alopecii, makrocefalii, faciální dysmorfismus a strukturální anomálie mozku","synonyms":["Deficit ornitin dekarboxylázy"]},"uk":{"name":"Синдром глобальної затримки розвитку-алопеції-макроцефалії-дисморфізму обличчя- структурних аномалій головного мозку","synonyms":["Синдром Бахмана-Буппа","Дефіцит орнітиндекарбоксилази"],"definition":"A rare disorder of ornithine metabolism characterized by global developmental delay, alopecia, macrocephaly, and dysmorphic facial features (including high and broad forehead, hypertelorism, ptosis, blepharophimosis, downslanting palpebral fissures, deep-set eyes, large ears, and retrognathia or high arched palate). Additional reported manifestations are sensorineural hearing loss, spasticity, hypotonia, hypoplastic nails, cryptorchidism, and clinodactyly, among others. Brain imaging may show white matter abnormalities, periventricular cysts, enlarged lateral ventricles, or prominent perivascular spaces."},"zh":{"name":"全身发育迟缓-脱发-大头畸形-面部畸形-结构性脑异常综合症","synonyms":["鸟氨酸脱羧酶缺乏症"]},"tr":{"name":"Yaygın gelişme geriliği-alopesi-makrosefali-fasiyal dismorfizm-yapısal beyin anomalileri sendromu","synonyms":["Bachmann-Bupp sendromu","Ornitin dekarboksilaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"619075","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C50.9","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"33642","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5436741","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":289869,"name":"Disorder of ornithine metabolism","classifications":[150,156]},{"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":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ODC1","name":"ornithine decarboxylase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"30239107[PMID]_30475435[PMID]_30544565[PMID]","hgnc":"8109","ensembl":"ENSG00000115758","omim":"165640","loci":["2p25.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"30239107[PMID]_30475435[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_30239107[PMID]_30475435[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-08-25","source":"30239107[PMID]_30475435[PMID]","terms":[{"hpo":"HP:0002223","label":"Absent eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008689","label":"Bilateral cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001488","label":"Bilateral ptosis","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:0012520","label":"Dilation of Virchow-Robin spaces","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030890","label":"Hyperintensity of cerebral white matter on MRI","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001520","label":"Large for gestational age","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002003","label":"Large forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001792","label":"Small nail","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000653","label":"Sparse eyelashes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002334","label":"Abnormality of the cerebellar vermis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000561","label":"Absent eyelashes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002099","label":"Asthma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002608","label":"Celiac disease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012450","label":"Chronic constipation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007082","label":"Dilated third ventricle","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006989","label":"Dysplastic corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001800","label":"Hypoplastic toenails","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010880","label":"Increased nuchal translucency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032152","label":"Keratosis pilaris","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006956","label":"Lateral ventricle dilatation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032671","label":"Non-convulsive status epilepticus without coma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007109","label":"Periventricular cysts","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002465","label":"Poor speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000384","label":"Preauricular skin tag","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0410018","label":"Recurrent ear infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000902","label":"Rib fusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000960","label":"Sacral dimple","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:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0045075","label":"Sparse eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002209","label":"Sparse scalp hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001182","label":"Tapered finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011309","label":"Tapered toe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007074","label":"Thick corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011276","label":"Vascular skin abnormality","frequency":"Occasional (29-5%)","criteria":null}]}}