{"orpha":2429,"name":"Macrocephaly-spastic paraplegia-dysmorphism syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Fryns macrocephaly"],"definition":"Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, dysmorphic facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2429/","orphanet_url":"https://www.orpha.net/en/disease/detail/2429","names":{"fr":{"name":"Syndrome de macrocéphalie-paraplégie spastique-dysmorphie","synonyms":["Macrocéphalie de Fryns"],"definition":"Syndrome rare d'anomalies congénitales multiples caractérisé par une macrocéphalie (d'apparition post-natale) et une fontanelle antérieure large, une paraplégie spastique complexe progressive, une dysmorphie faciale (front large et haut, yeux enfoncés profondément dans les orbites, philtrum court et lèvre supérieure fine, grande bouche et incisives proéminentes), des crises convulsives et une déficience intellectuelle de sévérité variable. Le mode de transmission semble être autosomique récessif."},"de":{"name":"Makrozephalie-spastische Paraplegie-Dysmorphien-Syndrom","synonyms":["Makrozephalie Typ Fryns"],"definition":"Das Makrozephalie-spastische Paraplegie-Dysmorphie-Syndrom ist ein seltenes Syndrom mehrerer kongenitaler Anomalien, welches durch Makrozephalie (post-natal beginnend mit großer anteriorer Fontanelle), progredienter komplexer spastischer Paraplegie, fazialen Dysmorphien (breite und hohe Stirn, tief sitzende Augen, kurzes Philtrum mit dünner Oberlippe, großer Mund und prominente Schneidezähne), Krampfanfälle und eine variable Intelligenzminderung charakterisiert ist. Die Vererbung scheint autosomal-rezessiv zu erfolgen."},"es":{"name":"Síndrome de macrocefalia-paraplejía espástica-dismorfia","synonyms":["Macrocefalia de Fryns"],"definition":"Es un síndrome poco frecuente de múltiples anomalías congénitas caracterizado por macrocefalia (de aparición postnatal) con fontanelas anteriores amplias, paraplejía espástica progresiva compleja, rasgos faciales dismórficos (frente ancha y alta, ojos hundidos, surco nasolabial corto con labio superior fino, boca grande e incisivos prominentes), crisis epilépticas, y deficiencia intelectual de gravedad variable. La herencia parece ser autosómica recesiva."},"it":{"name":"Macrocefalia - paraplegia spastica - dismorfismi","synonyms":["Macrocefalia di Fryns"],"definition":"La sindrome macrocefalia-paraplegia spastica-dismorfismi è una malattia rara da anomalie congenite multiple, caratterizzata da macrocefalia (ad esordio postnatale), con fontanella anteriore ampia, paraplegia spastica complessa progressiva, dismorfismi facciali (fronte ampia e alta, occhi infossati, filtro corto, labbro superiore sottile, bocca larga, incisivi prominenti), crisi epilettiche e deficit cognitivo di gravità variabile. È stata ipotizzata una trasmissione autosomica recessiva."},"nl":{"name":"Macrocefalie - spastische paraplegie - dysmorfie-syndroom","synonyms":["Fryns-macrocefalie"],"definition":"Macrocefalie - spastische paraplegie - dysmorfie-syndroom is een zeldzaam syndroom met multipele congenitale anomalieën dat gekarakteriseerd wordt door macrocefalie (met postnatale aanvang) met grote anterieure fontanel, progressieve complexe spastische paraplegie, dysmorfe gezichtskenmerken (breed en hoog voorhoofd, diepliggende ogen, kort filtrum met dunne bovenlip, grote mond en prominente snijtanden), insulten, en intellectuele beperking met variabele ernst. Overerving lijkt autosomaal recessief te gebeuren."},"pt":{"name":"Síndrome de macrocefalia-paraplegia espástica-dismorfia","synonyms":["Macrocefalia de Fryns"]},"pl":{"name":"Makrocefalia - paraplegia spastyczna - dysmorfizm","synonyms":["Makrocefalia Frynsa"]},"cs":{"name":"Syndrom zahrnující makrocefalii, spastickou paraplegii a dysmorfismus","synonyms":["Frynsova makrocefalie"]},"uk":{"name":"Синдром макроцефалії-спастичної параплегії-дисморфізму","synonyms":["Макроцефалія Фрайнів"],"definition":"Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, dysmorphic facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive."},"zh":{"name":"巨头畸型-痉挛性截瘫-畸形综合征","synonyms":["Fryns巨头畸形"]},"tr":{"name":"Makrosefali-spastik parapleji-dismorfizm sendromu","synonyms":["Fryns makrosefali"]}},"xrefs":[{"source":"OMIM","code":"600302","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010858","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563963","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1838281","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]},{"orpha":320346,"name":"Pure or complex autosomal recessive spastic paraplegia","classifications":[156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000336","label":"Prominent supraorbital ridges","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001956","label":"Truncal obesity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002162","label":"Low posterior hairline","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100874","label":"Thick hair","frequency":"Occasional (29-5%)","criteria":null}]}}