{"orpha":2077,"name":"German syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Hypotonia-arthrogryposis-facial dysmorphism-lymphedema syndrome"],"definition":"German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and ''carp''-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2077/","orphanet_url":"https://www.orpha.net/en/disease/detail/2077","names":{"fr":{"name":"Syndrome de German","synonyms":["Syndrome d'hypotonie-arthrogrypose-dysmorphie faciale-lymphoedème"],"definition":"Syndrome d'arthrogrypose autosomique récessif, décrit dans 5&nbsp;cas. Trois des quatre familles connues ayant des enfants atteints étaient des juifs ashkénazes. Le syndrome de German se caractérise par une arthrogrypose, une association hypotonie-hypokinésie et un lymphoedème. Les patients présentent un aspect craniofacial caractéristique (front haut et bouche dont la forme rappelle celle du museau d'une carpe, fente palatine), des contractures, une hypotonie sévère se manifestant par un retard moteur et des difficultés de déglutition. Le taux de morbidité et de mortalité est élevé et les patients survivants à la maladie présentent une petite taille, une hypotonie, des infections fréquentes des voies respiratoires supérieures et un retard psychomoteur. Aucun nouveau cas n'a été décrit dans la littérature depuis 1987."},"de":{"name":"German-Syndrom","synonyms":["Hypotonie-Arthrogrypose-Gesichtsdysmorphie-Lymphödem-Syndrom"]},"es":{"name":"Síndrome de German","synonyms":["Síndrome de hipotonía-artrogriposis-dismorfia facial-linfedema"],"definition":"El síndrome de German es un síndrome de artrogriposis (contracturas articulares congenitas), autosómico recesivo, y en el que se han descrito solo 5 casos. Tres de las cuatro familias conocidas con niños afectados eran judíos asquenazíes. El síndrome de German se caracteriza por artrogriposis, secuencia de hipotonía-hipoquinesia y linfedema. Los pacientes presentan una aspecto craneofacial característico (frente alta y boca en forma de carpa, paladar hendido), contracturas articulares, hipotonía grave que se manifiesta con retraso motor y dificultad para tragar. La enfermedad tiene una elevada tasa de morbilidad y mortalidad y los supervivientes presentan baja estatura, hipotonía, infecciones frecuentes de las vías respiratorias altas y retraso psicomotor. No hay más descripciones en la literatura desde 1987."},"it":{"name":"Sindrome di German"},"nl":{"name":"Syndroom van German","synonyms":["Hypotonie - artrogrypose - faciale dysmorfie - lymfoedeem-syndroom"],"definition":"Syndroom van German is een autosomaal recessief arthrogryposesyndroom dat werd beschreven in 5 gevallen. Drie van de vier gekende families met getroffen kinderen waren Asjkenazische Joden. Germansyndroom wordt gekarakteriseerd door arthrogrypose, hypotonie-hypokinesie sequentie, en lymfoedeem. Patiënten vertonen een opmerkelijke craniofaciale vorm (groot voorhoofd en ''karper''-vormige mond, schisis), contracturen, ernstige hypotonie die zich manifesteert als motorische achterstand, en moeilijkheden met slikken. De ziekte heeft een hoge morbiditeits- en mortaliteitsgraad en overlevenden vertonen een kleine gestalte, hypotonie, regelmatige infecties aan de bovenste luchtwegen, en psychomotorische achterstand. Sinds 1987 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome German","synonyms":["Síndrome de hipotonia-artrogripose-dismorfia facial-linfedema"]},"pl":{"name":"Zespół Germana","synonyms":["Hypotonia-arthrogryposis-facial dysmorphism-lymphedema syndrome"]},"cs":{"name":"Germanův syndrom","synonyms":["Hypotonia-arthrogryposis-facial dysmorphism-lymphedema syndrome"]},"uk":{"name":"Германський синдром","synonyms":["Гіпотонія - артрогрипоз - дисморфізм обличчя - набряковий синдром"],"definition":"German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and ''carp''-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987."},"zh":{"name":"German综合征","synonyms":["German综合征"]},"tr":{"name":"German sendromu","synonyms":["Hipotoni-artrogripozis-fasiyal dismorfizm-lenfödem sendromu"]}},"xrefs":[{"source":"OMIM","code":"231080","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009272","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562543","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3887495","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":109007,"name":"Arthrogryposis syndrome","classifications":[147]},{"orpha":2416,"name":"Congenital primary lymphedema without systemic or visceral involvement","classifications":[147,156,187,198]},{"orpha":723416,"name":"Genetic arthrogryposis syndrome","classifications":[156]},{"orpha":471383,"name":"Genetic lethal multiple congenital anomalies/dysmorphic syndrome","classifications":[156]},{"orpha":459787,"name":"Lethal multiple congenital anomalies/dysmorphic syndrome","classifications":[147]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"3812590[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3812590[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000534","label":"Abnormal eyebrow morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002804","label":"Arthrogryposis multiplex congenita","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002375","label":"Hypokinesia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001004","label":"Lymphedema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000194","label":"Open mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000364","label":"Hearing abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000202","label":"Orofacial cleft","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001671","label":"Abnormal cardiac septum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000062","label":"Ambiguous genitalia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Occasional (29-5%)","criteria":null}]}}