{"orpha":1860,"name":"Thanatophoric dysplasia type 1","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["TD1","Thanatophoric dwarfism type 1"],"definition":"A form of thanatophoric dysplasia characterized by prenatal onset of growth deficiency of the limbs of less than 5%, bowed femurs (like a telephone receiver), shortened ribs, and platyspondyly. Fetal MRI can identify temporal lobe abnormalities and a narrow foramen magnum. Postnatally, distinctive facial features include macrocephaly, large anterior fontanel, frontal bossing, midface hypoplasia, proptosis, and low nasal bridge. Neonates usually die shortly after birth due to respiratory insufficiency and/or spinal cord/brain stem compression.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1860/","orphanet_url":"https://www.orpha.net/en/disease/detail/1860","names":{"fr":{"name":"Dysplasie thanatophore type 1","synonyms":["Nanisme thanatophore type 1","TD1"],"definition":"Forme de dysplasie thanatophore caractérisée par l'apparition prénatale d'un retard de croissance des membres inférieurs ou moins de 5e percentile, des fémurs arrondis (rappelant la forme d'un combiné téléphonique), des côtes raccourcies et une platyspondylie. L'IRM foetale permet d'identifier des anomalies du lobe temporal et un foramen magnum étroit. Après la naissance, la dysmorphie faciale caractéristique se traduit par une macrocéphalie, une large fontanelle antérieure, une bosse frontale, une hypoplasie de l'étage du visage, une exophtalmie et un pont nasal déprimé. Les nouveau-nés décèdent généralement peu de temps après la naissance à la suite d'une insuffisance respiratoire et/ou d'une compression du tronc cérébral/de la moelle épinière."},"de":{"name":"Thanatophore Dysplasie Typ 1","synonyms":["Kleinwuchs, thanatophorer, Typ 1","TD1"],"definition":"Eine Form der thanatophoren Dysplasie, die durch einen pränatalen Wachstumsmangel mit einer Verkürzung der Gliedmaßen (Länge unter der 5. Perzentile), gebogenen Femurknochen (wie Telefonhörer), verkürzten Rippen und Platyspondylie gekennzeichnet ist. In der fetalen MRT können Anomalien der Temporallappen und ein enges Foramen magnum festgestellt werden. Postnatale Gesichtsmerkmale sind Makrozephalie, große vordere Fontanelle, Balkonstirn, Mittelgesichtshypoplasie, Proptosis und ein niedriger Nasenrücken. Die Neugeborenen sterben in der Regel kurz nach der Geburt an respiratorischer Insuffizienz und/oder Kompression des Rückenmarks/Hirnstamms."},"es":{"name":"Displasia tanatofórica tipo 1","synonyms":["Enanismo tanatofórico tipo 1","TD1"],"definition":"Es una forma de displasia tanatofórica caracterizada por la aparición prenatal de deficiencia del crecimiento de las extremidades de menos del 5%, incurvación femoral (en forma de auricular de teléfono), acortamiento de las costillas y platispondilia. La resonancia magnética fetal puede identificar anomalías en el lóbulo temporal y estrechamiento del foramen magno. Después del nacimiento, las características faciales distintivas incluyen macrocefalia, fontanela anterior amplia, protuberancia frontal, hipoplasia del tercio medio facial, proptosis y puente nasal bajo. Los neonatos suelen fallecer poco después del nacimiento debido a insuficiencia respiratoria y/o compresión de la médula espinal/ tronco encefálico."},"it":{"name":"Displasia tanatofora, tipo 1","synonyms":["Nanismo tanatoforo, tipo 1","TD1"],"definition":"Si tratta di una forma di displasia tanatofora, che esordisce in epoca prenatale con deficit della crescita degli arti inferiore al 5%, incurvamento dei femori (che ricordano la forma della cornetta del telefono), accorciamento delle costole e platispondilia. La RMN fetale può evidenziare anomalie del lobo temporale e il restringimento del forame magno. Dopo la nascita, i pazienti presentano dismorfismi facciali caratteristici, che comprendono la macrocefalia, la fontanella anteriore ampia, la fronte bombata, l'ipoplasia medio-facciale, la proptosi e l'infossamento della sella nasale. I neonati di solito muoiono poco dopo la nascita a causa dell'insufficienza respiratoria e/o della compressione del midollo spinale/tronco encefalico."},"nl":{"name":"Thanatofore dysplasie type 1","synonyms":["TD1","Thanatofore dwerggroei type 1"],"definition":"Een vorm van thanatofore dysplasie, gekenmerkt door prenatale aanvang van groeideficiëntie van ledematen van minder dan 5%, kromstand van femur (zoals een telefoonhoorn), korte ribben, en platyspondylie. Foetale MRI kan afwijkingen van temporaalkwab en smal foramen magnum identificeren. Typische postnatale gelaatskenmerken zijn onder meer macrocefalie, groot anterieur fontanel, boller voorhoofd, hypoplasie van middengezicht, proptosis, en lage neusbrug. Neonaten overlijden meestal kort na de geboorte als gevolg van respiratoire insufficiëntie en/of compressie van ruggenmerg/hersenstam."},"pt":{"name":"Displasia tanatofórica tipo 1","definition":"Forma de displasia tanatofórica caracterizada por início em idade pré-natal de perturbação do crescimento inferior a 5% dos membros, fêmures arqueados (semelhante a auscultador de telefone), costelas encurtadas e platispondilia. A RM fetal pode identificar anomalias do lobo temporal e um estreitamento do forame magno. Após o nascimento, as características faciais distintivas incluem macrocefalia, fontanela anterior grande, proeminência frontal, hipoplasia da face média, proptose e ponte nasal baixa. Os recém-nascidos habitualmente falecem logo após o nascimento devido a insuficiência respiratória e/ou compressão da medula espinhal/tronco cerebral."},"pl":{"name":"Dysplazja tanatoforyczna typu 1","synonyms":["Karłowatość tanatoforyczna typu 1","TD1"],"definition":"Dysplazja tanatoforyczna typu I (TD1) jest formą dysplazji tanatoforycznej (zobacz ten termin) i charakteryzuje się krótkimi i wygiętymi kośćmi podudzia, skróconymi kończynami, wąską klatką piersiową i brachydaktylią."},"cs":{"name":"Thanatoforická dysplázie, typ I","synonyms":["TDI","Tanatoforický dwarfismus, typ I"]},"uk":{"name":"Танатофорна дисплазія, тип 1","synonyms":["TD1","Танатофорна карликовість типу 1"],"definition":"A form of thanatophoric dysplasia characterized by prenatal onset of growth deficiency of the limbs of less than 5%, bowed femurs (like a telephone receiver), shortened ribs, and platyspondyly. Fetal MRI can identify temporal lobe abnormalities and a narrow foramen magnum. Postnatally, distinctive facial features include macrocephaly, large anterior fontanel, frontal bossing, midface hypoplasia, proptosis, and low nasal bridge. Neonates usually die shortly after birth due to respiratory insufficiency and/or spinal cord/brain stem compression."},"zh":{"name":"致死性骨发育不全1型","synonyms":["致死性侏儒症1型"]},"tr":{"name":"Tanatoforik displazi tip 1","synonyms":["TD1","Tanatoforik cücelik tip 1"]}},"xrefs":[{"source":"OMIM","code":"187600","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q77.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.02","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1743293343"},{"source":"MONDO","code":"0008546","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566844","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1868678","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9295","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":2655,"name":"Thanatophoric dysplasia","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"FGFR3","name":"fibroblast growth factor receptor 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301540[PMID]","hgnc":"3690","ensembl":"ENSG00000068078","omim":"134934","loci":["4p16.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Antenatal","Neonatal"],"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:0000944","label":"Abnormal metaphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100781","label":"Abnormality of the sacroiliac joint","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006487","label":"Bowing of the long bones","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002980","label":"Femoral bowing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012368","label":"Flat face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000946","label":"Hypoplastic ilia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002187","label":"Intellectual disability, profound","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008909","label":"Lethal short-limbed short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000774","label":"Narrow chest","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001582","label":"Redundant skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003097","label":"Short femur","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003185","label":"Short greater sciatic notch","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001171","label":"Split hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006703","label":"Aplasia/Hypoplasia of the lungs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007392","label":"Excessive wrinkled skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010880","label":"Increased nuchal translucency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000260","label":"Wide anterior fontanel","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000077","label":"Abnormality of the kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000956","label":"Acanthosis nigricans","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002676","label":"Cloverleaf skull","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002282","label":"Gray matter heterotopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null}]}}