{"orpha":2370,"name":"Larsen-like osseous dysplasia-short stature syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Larsen-like osseous dysplasia-short stature syndrome is a rare primary bone dysplasia characterized by a Larsen-like phenotype including multiple, congenital, large joint dislocations, craniofacial abnormalities (i.e. macrocephaly, flat occiput, prominent forehead, hypertelorism, low-set, malformed ears, flat nose, cleft palate), spinal abnormalities, cylindrical fingers, and talipes equinovarus, as well as growth retardation (resulting in short stature) and delayed bone age. Other reported clinical manifestations include severe developmental delay, hypotonia, clinodactyly, congenital heart defect and renal dysplasia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2370/","orphanet_url":"https://www.orpha.net/en/disease/detail/2370","names":{"fr":{"name":"Syndrome de dysplasie osseuse Larsen-like-nanisme","synonyms":["Syndrome de nanisme-laxité ligamentaire-retard de croissance"],"definition":"Une dysplasie osseuse primaire rare caractérisée par un phénotype Larsen-like incluant des luxations congénitales multiples au niveau des grosses articulations, des anomalies craniofaciales (macrocéphalie, occiput plat, front proéminent, hypertélorisme, oreilles malformées, implantées basses, nez plat, fente palatine), des anomalies vertébrales, des doigts cylindriques et des pieds bots varus équins, ainsi qu'un retard de croissance (conduisant à une petite taille) et un retard de l'âge osseux. Les autres signes cliniques rapportés incluent un retard de développement sévère, une hypotonie, une clinodactylie, des anomalies cardiaques congénitales et une dysplasie rénale."},"de":{"name":"Larsen-ähnliches Syndrom - Knochendysplasie - Kleinwuchs","definition":"Eine seltene primäre Knochendysplasie, die durch einen Larsen-ähnlichen Phänotyp gekennzeichnet ist. Das Syndrom manifestiert sich mit multiplen, angeborenen, Dislokationen der großen Gelenke, kraniofaziale Anomalien (Makrozephalie, flacher Hinterkopf, prominente Stirn, Hypertelorismus, tief angesetzte, fehlgebildete Ohren, flache Nase, Gaumenspalte), Wirbelsäulenanomalien, zylindrische Finger und Talipes equinovarus, sowie Wachstumsretardierung (resultierend in Kleinwuchs) und verzögertes Knochenalter. Weitere berichtete klinische Manifestationen sind schwere Entwicklungsverzögerung, Hypotonie, Klinodaktylie, angeborener Herzfehler und Nierendysplasie."},"es":{"name":"Síndrome de displasia ósea similar a Larsen-talla baja","synonyms":["Enanismo-laxitud ligamentosa-retraso del crecimiento","Síndrome de displasia ósea de Larsen-like-talla baja"],"definition":"El síndrome de displasia ósea similar a Larsen - talla baja es una displasia ósea primaria poco frecuente, caracterizada por un fenotipo similar a Larsen que incluye luxaciones congénitas múltiples de grandes articulaciones, anomalías craneofaciales (como por ejemplo, macrocefalia, occipucio plano, frente prominente, hipertelorismo, orejas malformadas de baja implantación, nariz plana, paladar hendido), anomalías de la columna vertebral, dedos cilíndricos y pie zambo, así como retraso del crecimiento (que resulta en talla baja) y retraso de la edad ósea. Otras manifestaciones clínicas notificadas incluyen retraso grave del desarrollo, hipotonía, clinodactilia, defecto cardíaco congénito y displasia renal."},"it":{"name":"Sindrome da displasia ossea Larsen - simile con bassa statura","definition":"La sindrome da displasia ossea Larsen-simile con bassa statura è una displasia scheletrica primitiva rara, caratterizzata da un quadro clinico che ricorda la sindrome di Larsen e comprende dislocazioni congenite multiple delle grandi articolazioni, anomalie craniofacciali (macrocefalia, occipite piatto, fronte prominente, ipertelorismo, orecchie malformate e a basso impianto, naso piatto, palatoschisi), anomalie della colonna, dita cilindriche, piedi equino-vari, ritardo della crescita (che esita nella bassa statura) e ritardo dell'età ossea. Altri segni clinici sono il grave ritardo dello sviluppo, l'ipotonia, la clinodattilia, le cardiopatie congenite e la displasia renale."},"nl":{"name":"Larsen-achtige botdysplasie - kleine gestalte-syndroom","definition":"Larsen-achtige benige dysplasie - kleine gestalte-syndroom is een zeldzame primaire botdysplasie die gekarakteriseerd wordt door een Larsen-achtig fenotype met onder meer multipele, congenitale dislocaties van grote gewrichten, craniofaciale afwijkingen (i.e. macrocefalie, plat achterhoofd, uitgesproken voorhoofd, hypertelorisme, laagstaande en misvormde oren, platte neus, gespleten verhemelte), afwijkingen aan de wervelkolom, cilindrische vingers, en talipes equinovarus (klompvoet), alsook groeiretardatie (die leidt tot een kleine gestalte) en vertraagde botmaturatie. Andere gerapporteerde klinische manifestaties zijn onder meer ernstige ontwikkelingsachterstand, hypotonie, clinodactylie, congenitaal hartdefect en nierdysplasie."},"pt":{"name":"Síndrome de displasia óssea tipo Larsen-nanismo"},"pl":{"name":"Dysplazja kostna typu Larsena - niski wzrost"},"cs":{"name":"Syndrom zahrnující oseální dysplázii podobnou Larsenovu syndromu a malý vzrůst"},"uk":{"name":"Синдром Ларсен-подібної кісткової дисплазії - низького зросту","definition":"Larsen-like osseous dysplasia-short stature syndrome is a rare primary bone dysplasia characterized by a Larsen-like phenotype including multiple, congenital, large joint dislocations, craniofacial abnormalities (i.e. macrocephaly, flat occiput, prominent forehead, hypertelorism, low-set, malformed ears, flat nose, cleft palate), spinal abnormalities, cylindrical fingers, and talipes equinovarus, as well as growth retardation (resulting in short stature) and delayed bone age. Other reported clinical manifestations include severe developmental delay, hypotonia, clinodactyly, congenital heart defect and renal dysplasia."},"zh":{"name":"Larsen样骨异常增生症-矮小综合征"},"tr":{"name":"Larsen benzeri kemik displazisi-kısa boy sendromu"}},"xrefs":[{"source":"OMIM","code":"608545","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q74.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.E","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"624625365"},{"source":"MONDO","code":"0012055","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707236","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93441,"name":"Primary bone dysplasia with multiple joint dislocations","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"12784294[PMID]_1916762[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_ 12784294[PMID]_1916762[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","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:0002644","label":"Abnormality of pelvic girdle bone morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004349","label":"Reduced bone mineral density","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001671","label":"Abnormal cardiac septum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Occasional (29-5%)","criteria":null}]}}