{"orpha":79346,"name":"Chondrodysplasia punctata, tibial-metacarpal type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, non-rhizomelic, chondrodysplasia punctata syndrome characterized, radiologically, by stippled calcifications and disproportionate, short metacarpals and tibiae (with characteristic overshoot of the proximal fibula), clinically manifesting with severe short stature, bilateral shortening of upper and lower limbs, flat midface and nose, in the absence of cataracts and cutaneous anomalies. Neonatal tachypnea, hydrocephalus and mild developmental delay have been seldomly associated. Additional radiologic features include bowed long bones, platyspondyly and/or vertebral clefts.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79346/","orphanet_url":"https://www.orpha.net/en/disease/detail/79346","names":{"fr":{"name":"Chondrodysplasie ponctuée tibio-métacarpienne","definition":"Syndrome de chondrodysplasie ponctuée non rhizomélique rare caractérisé, sur le plan radiologique, par des calcifications en pointillés et des métacarpiens et tibias disproportionnés et courts (la partie proximale de la fibula étant plus longue que le tibia), se manifestant sur le plan clinique par une petite taille de forme sévère, un raccourcissement bilatéral des membres supérieurs et inférieurs, la partie médiane du visage et le nez aplatis, en l'absence de cataractes et d'anomalies cutanées. La tachypnée du nouveau-né, l'hydrocéphalie et un léger retard de développement sont rarement associés. Les autres caractéristiques radiologiques comprennent des os longs recourbés, une platyspondylie et/ou des fentes vertébrales."},"de":{"name":"Chondrodysplasia punctata, tibiametakarpaler Typ","definition":"Ein seltene Form der nicht-rhizomelen Chondrodysplasia punctata, die radiologisch durch fleckige Verkalkungen und unverhältnismäßig kurze Mittelhandknochen und Schienbeine (mit charakteristischem Überschießen der proximalen Fibula) gekennzeichnet ist und sich klinisch durch starke Kleinwüchsigkeit, beidseitige Verkürzung der oberen und unteren Gliedmaßen, ein flaches Mittelgesicht und eine flache Nase manifestiert, jedoch ohne Katarakte und kutane Anomalien. Neonatale Tachnypnoe, Hydrocephalus und eine leichte Entwicklungsverzögerung wurden nur selten beobachtet. Zu den weiteren radiologischen Merkmalen gehören verbogene Röhrenknochen, Platyspondylie und/oder Wirbelsäulenspalten."},"es":{"name":"Condrodisplasia punctata tipo húmero-metacarpiana","definition":"Es un síndrome de condrodisplasia punctata no rizomélica poco frecuente, caracterizado radiológicamente por calcificaciones puntiformes y metacarpos y tibias cortos y desproporcionados (con afectación característica del peroné proximal). Clínicamente se manifiesta con marcada talla baja, acortamiento bilateral de miembros superiores e inferiores, aplanamiento mediofacial y nasal, en ausencia de cataratas y de anomalías cutáneas. Excepcionalmente se ha asociado con taquipnea neonatal, hidrocefalia y leve retraso del desarrollo. Otros hallazgos radiológicos adicionales incluyen arqueamiento de los huesos largos, platispondilia y/o hendiduras vertebrales."},"it":{"name":"Condrodisplasia puntata tipo tibiale-metacarpale","definition":"È una condrodisplasia puntata non rizomelica rara, caratterizzata, dal punto di vista radiografico, da calcificazioni punteggiate e da metacarpi e tibie corti e sproporzionati (con caratteristico superamento della porzione prossimale del perone). Il quadro clinico comprende la statura gravemente bassa, l'accorciamento bilaterale degli arti e l'appiattimento della porzione media del viso e del naso, in assenza di cataratta o anomalie cutanee. Raramente, si associa a tachipnea neonatale, idrocefalo e lieve ritardo dello sviluppo. Le radiografie evidenziano anche incurvamento delle ossa lunghe, platispondilia e/o schisi vertebrali."},"nl":{"name":"Chondrodysplasia punctata, tibiaal-metacarpaal type","definition":"Een zeldzame, niet-rhizomele, syndromale chondrodysplasia punctata die radiologisch gekarakteriseerd wordt door gestippelde verkalkingen en disproportionele, korte metacarpalen en scheenbeenderen (met kenmerkende overvleugeling door het proximale kuitbeen), en die zich klinisch manifesteert met ernstige kleine gestalte, bilaterale verkorting van bovenste en onderste ledematen, en plat middengezicht en neus, in afwezigheid van cataract en cutane anomalieën. Neonatale tachypneu, hydrocefalie en milde ontwikkelingsachterstand werden zelden geassocieerd. Bijkomende radiologische kenmerken zijn onder meer gebogen pijpbeenderen, platyspondylie en/of wervelspleten."},"pt":{"name":"Condrodisplasia pontuada tipo umero-metacárpica"},"pl":{"name":"Chondrodysplazja punktowa, typ piszczelowo-śródręczny"},"cs":{"name":"Chondrodysplasia punctata, tibiálněmetakarpální typ"},"uk":{"name":"Хондродисплазія точкова, великогомілково-пястковий тип","definition":"A rare, non-rhizomelic, chondrodysplasia punctata syndrome characterized, radiologically, by stippled calcifications and disproportionate, short metacarpals and tibiae (with characteristic overshoot of the proximal fibula), clinically manifesting with severe short stature, bilateral shortening of upper and lower limbs, flat midface and nose, in the absence of cataracts and cutaneous anomalies. Neonatal tachypnea, hydrocephalus and mild developmental delay have been seldomly associated. Additional radiologic features include bowed long bones, platyspondyly and/or vertebral clefts."},"zh":{"name":"点状软骨发育不良，胫骨-掌骨型"},"tr":{"name":"Kondrodisplazi punktata, tibial-metakarpal tip"}},"xrefs":[{"source":"OMIM","code":"118651","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q77.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.04","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1513713461"},{"source":"MONDO","code":"0007322","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562961","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0432224","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":176,"name":"Non-rhizomelic chondrodysplasia punctata","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":12.0,"area":"Worldwide","status":"Validated","source":"2248286[PMID]_14699613[PMID]_25602717[PMID]_36820636[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"2248286[PMID]_14699613[PMID]_25602717[PMID]_36820636[PMID]_ORPHANET"}],"phenotypes":null}