{"orpha":1972,"name":"Lethal faciocardiomelic dysplasia","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by polyhydramnios, low birth weight, dwarfism, limb anomalies (including hypoplasia of the radius and ulna with radial deviation of the hands, simian creases and hypoplasia of fingers&nbsp;I and V, hypoplasia of the fibula and tibia with talipes and wide space between toes&nbsp;I and II) dysmorphic features (including epicanthal folds, abnormal ears, microretrognathia, microstomia, microglossia, glossoptosis and webbed neck) and severe cardiac defects with a rapid fatal course. There have been no further descriptions in the literature since&nbsp;1975.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1972/","orphanet_url":"https://www.orpha.net/en/disease/detail/1972","names":{"fr":{"name":"Dysplasie facio-cardio-mélique létale","definition":"Anomalies congénitales multiples/syndrome dysmorphique rare caractérisé par un polyhydramnios, un faible poids de naissance, un nanisme, des anomalies des membres (hypoplasie du radius et de l'ulna et déviation radiale des mains, pli palmaire unique et hypoplasie des 1<sup>er</sup> et 5<sup>e</sup> doigts), une hypoplasie du péroné et du tibia, des pieds bots, un large espace entre les 1<sup>er</sup> et 2<sup>e</sup> orteils, une dysmorphie (épicanthus, anomalies d'oreilles, microrétrognathie, microstomie, microglossie, glossoptose et cou palmaire) et des malformations cardiaques sévères évoluant rapidement vers un décès. Aucun nouveau cas n'a été décrit dans la littérature depuis 1975."},"de":{"name":"Dysplasie, faziokardiomele letale","definition":"Ein seltenes Syndrom mit multiplen kongenitalen Anomalien/Dysmorphien, das durch Polyhydramnion, niedriges Geburtsgewicht, Kleinwuchs und Anomalien der Gliedmaßen gekennzeichnet ist. Diese umfassen Hypoplasie der Speiche und Elle mit Radialabweichung der Hände, Vierfingerfurche und Hypoplasie der Finger I und V, Hypoplasie des Wadenbeins und des Schienbeins mit Talipes und weiter Abstand zwischen erster und zweiter Zehe. Zu den dysmorphen Merkmalen zählen Epikanthusfalten, Ohranomalien, Mikroretrognathie, Mikrostomie, Mikroglossie, Glossoptose und Pterygium colli. Hinzu kommt eine schwere Linksherz-Fehlbildung, die wahrscheinlich zum Tod der drei Patienten in den ersten Lebenswochen führte. Seit 1975 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Displasia faciocardiomélica","definition":"Es un síndrome dismórfico/ de múltiples anomalías congénitas poco frecuente, caracterizado por polihidramnios, bajo peso al nacer, talla baja extrema, anomalías en las extremidades (incluyendo hipoplasia radio-cubital con desviación radial de las manos, pliegue palmar único e hipoplasia de los dedos I y V, hipoplasia del peroné y la tibia con pie zambo y amplio espacio entre los dedos I y II), rasgos dismórficos (incluyendo pliegues epicánticos, orejas anómalas, microrretrognatia, microstomía, microglosia, glosoptosis y cuello palmeado) y defectos cardíacos graves con un rápido desenlace fatal. No se han descrito más casos en la literatura desde 1975."},"it":{"name":"Sindrome facio-cardio-melica","definition":"La displasia facio-cardio-melica letale è una sindrome polimalformativa estremamente rara. La displasia facio-cardio-melica letale è una sindrome polimalformativa estremamente rara."},"nl":{"name":"Letale facio-cardio-melische dysplasie","definition":"Een zeldzaam syndroom met multipele congenitale anomalieën/dysmorfie, gekenmerkt door polyhydramnion, laag geboortegewicht, dwerggroei, ledemaatanomalieën (onder meer hypoplasie radius en ulna met radiale deviatie van de handen, doorlopende dwarse handlijnen van handpalm en hypoplasie van vingers I en V, hypoplasie van kuitbeen en scheenbeen met talipes en brede ruimte tussen tenen I en II), dysmorfe kenmerken (onder meer epicanthusplooien, abnormale oren, microretrognathie, microstomie, microglossie, glossoptose en pterygium colli), en ernstige hartdefecten met een snel fataal verloop. Sinds 1975 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Displasia facio-cardio-mélica letal","definition":"A displasia facio-cardio-mélica letal é uma síndrome polimalformativa extremamente rara."},"pl":{"name":"Śmiertelna dysplazja twarzowo-sercowo-kończynowa"},"cs":{"name":"Letální faciokardiomelická dysplázie"},"uk":{"name":"Летальна фаціокардіомелічна дисплазія","definition":"An extremely rare polymalformative syndrome."},"zh":{"name":"致死性面-心发育不良"},"tr":{"name":"Letal fasiyokardiyomelik displazi"}},"xrefs":[{"source":"OMIM","code":"227270","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009204","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565578","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1856891","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2229","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":471383,"name":"Genetic lethal multiple congenital anomalies/dysmorphic syndrome","classifications":[156]},{"orpha":404574,"name":"Genetic syndrome with limb reduction defects","classifications":[156]},{"orpha":459787,"name":"Lethal multiple congenital anomalies/dysmorphic syndrome","classifications":[147]},{"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":3.0,"area":"Worldwide","status":"Validated","source":"1218241[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_1218241[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0007598","label":"Bilateral single transverse palmar creases","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003038","label":"Fibular hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002984","label":"Hypoplasia of the radius","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003022","label":"Hypoplasia of the ulna","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004383","label":"Hypoplastic left heart","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000171","label":"Microglossia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000308","label":"Microretrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004059","label":"Radial club hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001852","label":"Sandal gap","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009237","label":"Short 5th finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009778","label":"Short thumb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005736","label":"Short tibia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Frequent (79-30%)","criteria":null}]}}