{"orpha":1354,"name":"Heart defects-limb shortening syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs and variable congenital heart malformations, such as atrial and ventricular septal defects, right ventricular hypoplasia, and valve defects). There have been no further descriptions in the literature since 1990.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1354/","orphanet_url":"https://www.orpha.net/en/disease/detail/1354","names":{"fr":{"name":"Syndrome de cardiopathie congénitale-membres courts","definition":"Anomalies congénitales multiples/syndrome dysmorphique rare caractérisé par une dysplasie squelettique à type de fente coronale des corps vertébraux et de membres courts, et par des malformations cardiaques congénitales variables, telles qu'une communication interventriculaire et interauriculaire, une hypoplasie du ventricule droit et une valvulopathie. Aucun cas n'a été décrit dans la littérature depuis 1990."},"de":{"name":"Herzfehler-Extremitätenverkürzung-Syndrom","synonyms":["Syndrom der Herzfehlbildung mit Gliedmaßenverkürzung"],"definition":"Ein seltenes Fehlbildungssyndrom, das durch Skelettdysplasie (einschließlich koronaler Spaltbildung der Wirbelkörper und kurzer Gliedmaßen) und variable kongenitale Fehlbildungen des Herzens (z. B. Vorhof- und Ventrikelseptumdefekte, Hypoplasie des rechten Ventrikels und Herzklappenfehler) gekennzeichnet ist. Seit 1990 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de cardiopatía congénita-extremidades cortas","definition":"Es un síndrome dismórfico con múltiples anomalías congénitas poco frecuente caracterizado por displasia esquelética (incluyendo hendiduras coronales en los cuerpos vertebrales y extremidades cortas) y por malformaciones cardíacas congénitas variadas tales como comunicación interauricular e interventricular, hipoplasia ventricular derecha y defectos valvulares. No ha habido más casos descritos en la literatura desde 1990."},"it":{"name":"Sindrome da cardiopatie e arti corti","definition":"È una malattia rara da anomalie/dismorfismi congeniti multipli, caratterizzata da displasia scheletrica (che comprende la schisi coronale dei corpi vertebrali e l'accorciamento degli arti) e cardiopatie congenite variabili (difetti del setto interatriale e interventricolare, ipoplasia del ventricolo destro e difetti valvolari). Non sono stati descritti nuovi casi dopi il 1990."},"nl":{"name":"Hartdefecten - verkorte ledematen-syndroom","definition":"Een zeldzaam meervoudige congenitale anomalieën/dysmorfie-syndroom gekarakteriseerd door skeletdysplasie (inclusief coronale splijting van de wervellichamen en korte ledematen) en variabele congenitale hartmalformaties, zoals atrium- en ventrikelseptumdefecten, hypoplasie van het rechterventrikel, en klepdefecten. Sinds 1990 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de cardiopatia-encurtamento de membros"},"pl":{"name":"Wady serca - skrócenie kończyn"},"cs":{"name":"Syndrom zahrnující srdeční vady a zkrácené končetiny"},"uk":{"name":"Синдром вади серця - укорочення кінцівок","definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs and variable congenital heart malformations, such as atrial and ventricular septal defects, right ventricular hypoplasia, and valve defects). There have been no further descriptions in the literature since 1990."},"zh":{"name":"心脏缺损-肢体短缩综合征"},"tr":{"name":"Kalp defekti-ekstremite kısalma sendromu"}},"xrefs":[{"source":"OMIM","code":"212135","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008917","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535850","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1859327","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2613","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":404574,"name":"Genetic syndrome with limb reduction defects","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":156532,"name":"Rare syndrome with cardiac malformations","classifications":[147,148,156]},{"orpha":294955,"name":"Syndrome with limb reduction defects","classifications":[147,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"2074559[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_2074559[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:0000944","label":"Abnormal metaphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005616","label":"Accelerated skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003498","label":"Disproportionate short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005026","label":"Mesomelic/rhizomelic limb shortening","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000774","label":"Narrow chest","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001633","label":"Abnormal mitral valve morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001702","label":"Abnormal tricuspid valve morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004414","label":"Abnormality of the pulmonary artery","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001522","label":"Death in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Frequent (79-30%)","criteria":null}]}}