{"orpha":93274,"name":"Thanatophoric dysplasia type 2","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Cloverleaf skull-micromelic bone dysplasia syndrome","TD2","Thanatophoric dwarfism type 2","Thanatophoric dwarfism-cloverleaf skull syndrome"],"definition":"A form of thanatophoric dysplasia characterized by prenatal onset of micromelia with straight femurs, platyspondyly, narrow thorax, and cloverleaf skull with increased risk of hydrocephalus and neurological complications. Fetal MRI can identify temporal lobe abnormalities and a narrow foramen magnum. Postnatally, distinctive facial features include macrocephaly, frontal bossing, midface hypoplasia, low nasal bridge, large anterior fontanel, and proptosis. 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-93274/","orphanet_url":"https://www.orpha.net/en/disease/detail/93274","names":{"fr":{"name":"Dysplasie thanatophore type 2","synonyms":["Syndrome de nanisme thanatophore-crâne en trèfle","TD2","Nanisme thanatophore type 2","Syndrome de crâne en trèfle-dysplasie osseuse micromélique"],"definition":"Forme de dysplasie thanatophore caractérisée par l'apparition prénatale d'une micromélie avec fémurs droits, platyspondylie, thorax étroit et crâne en trèfle, et par un risque accru d'hydrocéphalie et de complications neurologiques. L'IRM foetale permet d'identifier des anomalies du lobe temporal et un foramen magnum étroit. Après la naissance, la dysmorphie faciale caractéristique inclut : macrocéphalie, bosse frontale, hypoplasie de l'étage moyen du visage, pont nasal déprimé, large fontanelle antérieure et proptose. 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 2","synonyms":["Kleeblattschädel - mikromele Knochendysplasie","Kleinwuchs, thanatophorer - Kleeblattschädel","Kleinwuchs, thanatophorer, Typ 2","TD2","Thanatophorer Kleinwuchs - Kleeblattschädel"],"definition":"Eine Form der thanatophoren Dysplasie, die durch das pränatale Auftreten von Mikromelie mit geraden Oberschenkeln, Platyspondylie, schmalem Thorax und Kleeblattschädel mit erhöhtem Risiko für Hydrozephalus und neurologische Komplikationen gekennzeichnet ist. In der fetalen MRT können Anomalien der Schläfenlappen und ein enges Foramen magnum festgestellt werden. Zu den postnatalen Merkmalen gehören Makrozephalie, Balkonstirn, Mittelgesichtshypoplasie, niedriger Nasenrücken, große vordere Fontanelle und Proptosis. Die Neugeborenen sterben in der Regel kurz nach der Geburt an Ateminsuffizienz und/oder Kompression des Rückenmarks/Hirnstamms."},"es":{"name":"Displasia tanatofórica tipo 2","synonyms":["Enanismo tanatofórico tipo 2","Síndrome de cráneo en trébol-displasia ósea micromélica","Síndrome de enanismo tanatofórico-cráneo en hoja de trébol","TD2"],"definition":"Es una forma de displasia tanatofórica caracterizada por la aparición prenatal de micromelia con fémures rectos, platispondilia, tórax angosto y cráneo en forma de trébol con mayor riesgo de hidrocefalia y complicaciones neurológicas. La resonancia magnética fetal puede identificar anomalías en el lóbulo temporal y un estrechamiento del forum magno. Después del nacimiento, las características faciales distintivas incluyen macrocefalia, protuberancia frontal, hipoplasia del tercio medio facial, puente nasal bajo, fontanela anterior amplia y proptosis. 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 2","synonyms":["Cranio a trifoglio - displasia ossea micromelica","Nanismo tanatoforo - cranio a trifoglio","Nanismo tanatoforo, tipo 2","TD2"],"definition":"Si tratta di una forma di displasia tanatofora che esordisce in epoca prenatale con micromelia con femori diritti, platispondilia, torace stretto e cranio a trifoglio, associato alla probabilità di idrocefalo e complicanze neurologiche. 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 fronte bombata, l'ipoplasia medio-facciale, la sella nasale infossata, la fontanella anteriore ampia e la proptosi. 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 2","synonyms":["Klaverbladschedel - micromelische botdysplasie-syndroom","TD2","Thanatofore dwerggroei - klaverbladschedel-syndroom","Thanatofore dwerggroei type 2"],"definition":"Een vorm van thanatofore dysplasie, gekenmerkt door prenatale aanvang van micromelie met rechte femur, platyspondylie, smalle thorax, en klaverbladschedel met verhoogd risico op hydrocefalie en neurologische complicaties. Foetale MRI kan afwijkingen van temporaalkwab en smal foramen magnum identificeren. Typische postnatale gelaatskenmerken zijn onder meer macrocefalie, boller voorhoofd, hypoplasie van middengezicht, lage neusbrug, groot anterieur fontanel, en proptosis. Neonaten overlijden meestal kort na de geboorte als gevolg van respiratoire insufficiëntie en/of compressie van ruggenmerg/hersenstam."},"pt":{"name":"Displasia tanatofórica tipo 2","definition":"Forma de displasia tanatofórica caracterizada por início em idade pré-natal de micromelia com fémures retos, platispondilia, tórax estreito e crânio em forma de trevo com risco aumentado de hidrocefalia e complicações neurológicas. A RM fetal pode identificar anomalias do lobo temporal e um estreitamento do forame magno. Após o nascimento, as características faciais distintivas incluem macrocefalia, proeminência frontal, hipoplasia da face média, ponte nasal baixa, fontanela anterior alargada e proptose. 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 2","synonyms":["Czaszka w kształcie trójlistnej koniczyny - dysplazja mikromeliczna kości","Karłowatość tanatoforyczna - czaszka w kształcie trójlistnej koniczyny","Karłowatość tanatoforyczna typu 2","TD2"],"definition":"Dysplazja/karłowatość tanatoforyczna typu II jest formą dysplazji tanatoforycznej (zobacz ten termin), która charakteryzuje się skróceniem kończyn (mikromelia), prostymi kośćmi długimi, wielkogłowiem, brachydaktylią (skrócenie palców), skróconymi żebrami i czaszką o kształcie koniczyny trójlistnej (kleeblattschaedel)."},"cs":{"name":"Thanatoforická dysplázie, typ 2","synonyms":["Syndrom zahrnující lebku tvaru jetelového listu a mikromelickou kostní dysplázii","TD2","Thanatoforické trpaslictví, typ 2","Syndrom zahrnující thanatoforické trpaslictví a lebku tvaru jetelového listu"]},"uk":{"name":"Танатофорна дисплазія, тип 2","synonyms":["Синдром мікромелічної дисплазії кісток черепа з листям конюшини","TD2","Танатофорна карликовість типу 2","Синдром танатофорної карликовості - черепа конюшиновий листок"],"definition":"A form of thanatophoric dysplasia characterized by prenatal onset of micromelia with straight femurs, platyspondyly, narrow thorax, and cloverleaf skull with increased risk of hydrocephalus and neurological complications. Fetal MRI can identify temporal lobe abnormalities and a narrow foramen magnum. Postnatally, distinctive facial features include macrocephaly, frontal bossing, midface hypoplasia, low nasal bridge, large anterior fontanel, and proptosis. Neonates usually die shortly after birth due to respiratory insufficiency and/or spinal cord/brain stem compression."},"zh":{"name":"致死性侏儒症2型","synonyms":["三叶草状颅-微骨发育不良综合征"],"definition":"致死性侏儒症性发育不良2型（TD2）是TD（见该词条）的一种形式，其特征是四肢短小、直长骨、大头畸形、短指（趾）畸形、肋骨短和分叶状颅骨（kleblattschaedel）。"},"tr":{"name":"Tanatoforik displazi tip 2","synonyms":["TD2","Tanatoforik cücelik tip 2","Tanatoforik cücelik-yonca yaprağı kafatası sendromu","Yonca yaprağı kafatası-mikromelik kemik displazisi sendromu"]}},"xrefs":[{"source":"OMIM","code":"156830","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"187601","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":"986127718"},{"source":"MONDO","code":"0008547","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536508","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1300257","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1402","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":["Infancy","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:0006703","label":"Aplasia/Hypoplasia of the lungs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002676","label":"Cloverleaf skull","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012368","label":"Flat face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","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:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010306","label":"Short thorax","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Very frequent (99-80%)","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:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002269","label":"Abnormality of neuronal migration","frequency":"Occasional (29-5%)","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:0002084","label":"Encephalocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001360","label":"Holoprosencephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null}]}}