{"orpha":2636,"name":"Microcephalic osteodysplastic primordial dwarfism types I and III","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["MOPD types I and III","Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type","Primordial microcephalic dwarfism, Crachami type","Taybi-Linder syndrome"],"definition":"A rare, severe, primary bone dysplasia characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2636/","orphanet_url":"https://www.orpha.net/en/disease/detail/2636","names":{"fr":{"name":"Nanisme microcéphalique ostéodysplasique primordial types I et III","synonyms":["MOPD types I et III","Nanisme microcéphalique ostéodysplasique primordial type Crachami","Nanisme microcéphalique ostéodysplasique primordial type Taybi-Linder","Syndrome de Taybi-Linder"],"definition":"Dysplasie osseuse primaire rare et sévère caractérisée par un retard de croissance intra-utérin et postnatal, une microcéphalie, une dysmorphie faciale, une dysplasie squelettique, un faible poids à la naissance et des anomalies cérébrales."},"de":{"name":"Kleinwuchs, mikrozephaler osteodysplastischer primordialer, Typ I und III","synonyms":["Mikrozephaler primordialer Kleinwuchs Typ Crachami","Taybi-Linder-Syndrom","MOPD Typ I und III","MOPD Typen I und III","Mikrozephaler osteodysplastischer primordialer Kleinwuchs Typ Taybi-Linder"],"definition":"Eine schwere primäre Knochendysplasie, die durch intrauterine und postnatale Wachstumsverzögerung, Mikrozephalie, Gesichtsdysmorphien, Skelettdysplasie, niedriges Geburtsgewicht und Hirnanomalien gekennzeichnet ist."},"es":{"name":"Talla baja significativa primordial osteodisplásica microcefálica tipos I y III","synonyms":["Enanismo primordial osteodisplásico microcefálico tipo Taybi-Linder"],"definition":"Es una displasia ósea primaria, poco frecuente y grave, caracterizada por retraso del crecimiento intrauterino y postnatal, microcefalia, dismorfia facial, displasia esquelética, bajo peso al nacer y anomalías cerebrales."},"it":{"name":"Nanismo osteodisplastico microcefalico primitivo tipi I e III","synonyms":["MOPD, tipi I e III","Nanismo osteodisplastico microcefalico primitivo, tipo Crachami","Nanismo osteodisplastico microcefalico primitivo, tipo Taybi-Linder","Sindrome di Taybi-Linder"],"definition":"Si tratta di una grave displasia scheletrica primitiva rara, caratterizzata da ritardo della crescita pre- e postnatale, microcefalia, dismorfismi facciali, displasia scheletrica, scarso peso alla nascita e anomalie cerebrali."},"nl":{"name":"Microcefale osteodysplastische primordiale dwerggroei types I en III","synonyms":["MOPD types I en III","Microcefale osteodysplastische primordiale dwerggroei, Taybi-Linder-type","Microcefale primordiale dwerggroei, Crachami-type","Syndroom van Taybi-Linder"],"definition":"Een zeldzame, ernstige primaire botdysplasie, gekarakteriseerd door intra-uteriene en postnatale groeiretardatie, microcefalie, faciale dysmorfie, skeletdysplasie, laag geboortegewicht en hersenanomalieën."},"pt":{"name":"Nanismo microcefálico osteodisplásico primordial tipos I e III","synonyms":["Nanismo microcefálico osteodisplásico primordial, tipo Taybi-Linder","Nanismo microcefálico primordial, tipo Crachami"]},"pl":{"name":"Pierwotna niskorosłość osteodysplastyczna mikrocefaliczna typu 1 i 3","synonyms":["MOPD typy I i III","Pierwotna niskorosłość mikrocefaliczna, typu Crachami","Pierwotna niskorosłość osteodysplastyczna mikrocefaliczna typu Taybiego i Lindera","Zespół Taybiego i Lindera"]},"cs":{"name":"Mikrocefalické osteodysplastické primordiální trpaslictví, typy I a II","synonyms":["MOPD typ I a II","Primordiální mikrocefalické trpaslictví, typ Crachamiové","Mikrocefalické osteodysplastické primordiální trpaslictví, Taybiho-Lindnerův typ","Taybiho-Linderův syndrom","Mikrocefalické osteodysplastické primordiální trpaslictví, Taybi-Lindnerův typ","Taybi-Linderův syndrom"]},"uk":{"name":"Мікроцефальна остеодиспластична первинна карликовість I та III типів","synonyms":["Мікроцефальна остеодиспластична первинна карликовість, тип Тайбі-Ліндера","MOPD типів I і III","Первинна мікроцефальна карликовість, тип Крахамі","Синдром Тейбі-Ліндера"],"definition":"A rare, severe, primary bone dysplasia characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies."},"zh":{"name":"小头骨发育不良先天性侏儒I和III型","synonyms":["小头畸形-骨发育不良-原基性侏儒症，Taybi-Linder型"]},"tr":{"name":"Mikrosefalik osteodisplastik primordiyal cücelik türleri I ve III","synonyms":["MOPD türleri I ve III","Taybi-Linder sendromu","Primordiyal mikrosefalik cücelik, Crachami tipi","Mikrosefalik osteodisplastik primordiyal cücelik, Taybi-Linder tipi"]}},"xrefs":[{"source":"OMIM","code":"210710","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD20.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"267786429"},{"source":"MONDO","code":"0016994","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4319565","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5120","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":324761,"name":"Microcephalic primordial dwarfism","classifications":[147,156,181]},{"orpha":98638,"name":"Rare disease with glaucoma as a major feature","classifications":[156,189]},{"orpha":93440,"name":"Slender bone dysplasia","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"RNU4ATAC","name":"RNA, U4atac small nuclear","gene_type":"Non-coding RNA","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21815888[PMID]_23794361[PMID]","hgnc":"34016","ensembl":"ENSG00000264229","omim":"601428","loci":["2q14.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":53.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-07-18","source":null,"terms":[{"hpo":"HP:0009832","label":"Abnormal distal phalanx morphology of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005108","label":"Abnormal intervertebral disk morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005916","label":"Abnormal metacarpal morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000944","label":"Abnormal metaphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100530","label":"Abnormality of calcium-phosphate metabolism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001167","label":"Abnormality of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000077","label":"Abnormality of the kidney","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003172","label":"Abnormality of the pubic bone","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000924","label":"Abnormality of the skeletal system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010935","label":"Abnormality of the upper urinary tract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000079","label":"Abnormality of the urinary system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100569","label":"Abnormally ossified vertebrae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005613","label":"Aplasia/hypoplasia of the femur","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006660","label":"Aplastic clavicles","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010443","label":"Bifid femur","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007598","label":"Bilateral single transverse palmar creases","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009836","label":"Broad distal phalanx of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011097","label":"Epileptic spasm","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002121","label":"Generalized non-motor (absence) seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000072","label":"Hydroureter","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001176","label":"Large hands","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008818","label":"Large iliac wings","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003189","label":"Long nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011457","label":"Loss of eyelashes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003552","label":"Muscle stiffness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002749","label":"Osteomalacia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000448","label":"Prominent nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000269","label":"Prominent occiput","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002878","label":"Respiratory failure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002748","label":"Rickets","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002063","label":"Rigidity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003510","label":"Severe short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004279","label":"Short palm","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002133","label":"Status epilepticus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0045074","label":"Thin eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009912","label":"Abnormal tragus morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000193","label":"Bifid uvula","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000340","label":"Sloping forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000176","label":"Submucous cleft hard palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012471","label":"Thick vermilion border","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000474","label":"Thickened nuchal skin fold","frequency":"Frequent (79-30%)","criteria":null}]}}