{"orpha":420794,"name":"Cono-spondylar dysplasia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Short stature-kyphosis-hypoplasia of basal ilia-cone epiphyses-facial dysmorphism syndrome"],"definition":"Cono-spondylar dysplasia is a rare genetic primary bone dysplasia disorder characterized by early-onset severe lumbar kyphosis, marked brachydactyly and irregular, pronounced cone epiphyses of the metacarpals and phalanges. Additional reported features include developmental delay, intellectual disability, hypotonia, epileptic seizures and mild facial dysmorphism (incl. long and thin or square-shaped face, slight mid-face hypoplasia, hypertelorism, epicanthic folds, low-set ears, anteverted nostrils). Radiographic findings also reveal hypoplasia of iliac wings and anterior defect of vertebral bodies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-420794/","orphanet_url":"https://www.orpha.net/en/disease/detail/420794","names":{"fr":{"name":"Dysplasie cono-spondylaire","synonyms":["Syndrome de petite taille-cyphose-hypoplasie des ailes iliaques-épiphyses coniques-dysmorphie faciale"],"definition":"Une dysplasie génétique osseuse primaire rare caractérisée par une cyphose lombaire sévère précoce, une brachydactylie prononcée et les épiphyses des métacarpes et des phalanges irrégulières, de forme très conique. Les signes additionnels rapportés incluent un retard de développement, un déficit intellectuel, une hypotonie, des convulsions épileptiques et une légère dysmorphie faciale (incluant un visage carré ou long et fin, une légère hypoplasie de l'étage moyen du visage, un hypertélorisme, des plis épicanthiques, des oreilles implantées basses, des narines antéversées). La radiologie révèle aussi une hypoplasie des ailes iliaques et des anomalies antérieures des corps vertébraux."},"de":{"name":"Cono-spondyläre Dysplasie","synonyms":["Kleinwuchs-Kyphose-Hypoplasie der basalen Ilia-Zapfenepiphysen-Gesichtsdysmorphie-Syndrom"],"definition":"Die kono-spondyläre Dysplasie ist eine seltene, genetisch bedingte primäre Knochendysplasie, die durch eine früh einsetzende schwere lumbale Kyphose, ausgeprägte Brachydaktylie und unregelmäßige, ausgeprägte Kegelepiphysen der Mittelhandknochen und Phalangen gekennzeichnet ist. Zusätzlich werden Entwicklungsverzögerung, Intelligenzminderung, Hypotonie, epileptische Anfälle und leichte faziale Dysmorphien (u. a. langes und dünnes oder quadratisches Gesicht, leichte Hypoplasie des Mittelgesichts, Hypertelorismus, Epikanthusfalten, tief angesetzte Ohren, antevertierte Nasenlöcher) berichtet. Der Röntgenbefund zeigt eine Hypoplasie der Darmbeinflügel und einen vorderen Defekt der Wirbelkörper."},"es":{"name":"Displasia cono-espondilar","synonyms":["Síndrome de talla baja-cifosis-hipoplasia de las alas ilíacas-epífisis cónica-dismorfia facial"],"definition":"Es un trastorno genético óseo primario poco frecuente caracterizado por cifosis lumbar grave de inicio temprano, marcada braquidactilia y epífisis cónica pronunciada e irregular de los metacarpianos y falanges. Las características adicionales descritas incluyen retraso en el desarrollo, discapacidad intelectual, hipotonía, convulsiones epilépticas y leve dismorfia facial leve (incl. rostro delgado y alargado o cuadrado, ligera hipoplasia mediofacial, hipertelorismo, pliegues epicánticos, orejas de baja implantación, orificios nasales antevertidos). Los hallazgos radiológicos también revelan hipoplasia de las alas ilíacas y defecto anterior de los cuerpos vertebrales."},"it":{"name":"Displasia cono-spondilare","synonyms":["Sindrome bassa statura-cifosi-ipoplasia delle ali iliache-epifisi a cono-dismorfismi facciali"],"definition":"La displasia cono-spondilare è una displasia scheletrica primitiva rara, di origine genetica, caratterizzata da cifosi lombare grave ad esordio precoce, marcata brachidattilia, epifisi significativamente coniche ed irregolarità dei metacarpi e delle falangi. Altri segni clinici associati sono il ritardo dello sviluppo, la disabilità intellettiva, l'ipotonia, le crisi epilettiche e i dismorfismi facciali sfumati (viso allungato e assottigliato o squadrato, lieve ipoplasia medio-facciale, ipertelorismo, epicanto, orecchie a basso impianto, narici anteverse). Le radiografie evidenziano ipoplasia delle ossa iliache e difetti della porzione anteriore dei corpi vertebrali."},"nl":{"name":"Cono-spondylaire dysplasie","synonyms":["Kleine gestalte - kyfose - hypoplasie van ala ossis ilii - kegelvormige epifysen - faciale dysmorfie-syndroom"],"definition":"Cono-spondylaire dysplasie is een zeldzame, genetische primaire botdysplasie die gekarakteriseerd wordt door vroeg aanvangende, ernstige lumbale kyfose, duidelijke brachydactylie en onregelmatige, uitgesproken kegelvormige epifysen van de metacarpalen en falangen. Bijkomende kenmerken die werden gerapporteerd, zijn onder meer ontwikkelingsachterstand, intellectuele achterstand, hypotonie, epileptische insulten en milde faciale dysmorfie (incl. lang en dun of vierkant gezicht, geringe hypoplasie van het middengezicht, hypertelorisme, epicanthusplooien, laagstaande oren, anteversie van de neusgaten). Radiografie toont ook hypoplasie van de darmbeenvleugels en defecten aan het voorste deel van wervellichamen."},"pt":{"name":"Displasia cono-espondilar"},"pl":{"name":"Dysplazja stożkowo-kręgowa","synonyms":["Zespół niskiego wzrostu, kifozy, hipoplazji nasady kości biodrowej, stożkowatych nasad i dysmorfii twarzy"]},"cs":{"name":"Kono-spondylární dysplázie","synonyms":["Syndrom zahrnující malý vzrůst, kyfózu, hypoplázii baze kosti kyčelní, kuželovité epifýzy a faciální dysmorfismus"]},"uk":{"name":"Коно-спондилярна дисплазія","synonyms":["Синдром низькорослості - кіфозу - гіпоплазії базальних епіфізів клубових кісток - дисморфізму обличчя"],"definition":"Cono-spondylar dysplasia is a rare genetic primary bone dysplasia disorder characterized by early-onset severe lumbar kyphosis, marked brachydactyly and irregular, pronounced cone epiphyses of the metacarpals and phalanges. Additional reported features include developmental delay, intellectual disability, hypotonia, epileptic seizures and mild facial dysmorphism (incl. long and thin or square-shaped face, slight mid-face hypoplasia, hypertelorism, epicanthic folds, low-set ears, anteverted nostrils). Radiographic findings also reveal hypoplasia of iliac wings and anterior defect of vertebral bodies."},"zh":{"name":"椎间突发育不良","synonyms":["短小身材-脊柱后凸-髂骨畸形-锥形骨骺-面部畸形综合征"],"definition":"圆锥关节发育不良是一种罕见的遗传性原发性骨发育异常疾病，其特征是早发性严重腰椎后凸畸形，表现为圆锥骨骺掌骨和指骨的不规则。其他有报道的临床特征包括发育迟缓，智力障碍，肌张力低下，癫痫发作和轻度面部畸形（包括长而瘦或方形的脸型，轻度中脸发育不全，器官距离过远，内眦皮褶皱，耳朵低，鼻孔前屈）。影像学检查结果还显示髂骨翼发育不全和椎体前部缺损。"},"tr":{"name":"Kono-spondiler displazi","synonyms":["Kısa boy-kifozis-bazal ilya-hipoplazi-koni epifiz-fasiyal dismorfizm sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q78.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018490","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707860","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":183570,"name":"Genetic malformation syndrome with short stature","classifications":[156]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":139021,"name":"Malformation syndrome with short stature","classifications":[147]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":253,"name":"Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"24975242[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24975242[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-10-20","source":"24975242[PMID]","terms":[{"hpo":"HP:0000943","label":"Dysostosis multiplex","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0010230","label":"Cone-shaped epiphyses of the phalanges of the hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000924","label":"Abnormality of the skeletal system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002656","label":"Epiphyseal dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002370","label":"Poor coordination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008093","label":"Short 4th toe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001799","label":"Short nail","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012537","label":"Food intolerance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001338","label":"Partial agenesis of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005792","label":"Short humerus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006385","label":"Short lower limbs","frequency":"Occasional (29-5%)","criteria":null}]}}