{"orpha":319195,"name":"Chondroectodermal dysplasia with night blindness","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Chondroectodermal dysplasia with night blindness is a rare genetic bone development disorder characterized by proportionate short stature, nail dysplasia (enlarged, convex, hypertrophic nails), hypodontia and night blindness. Osteopenia, a tendency to present fractures, talipes varus with abnormal gait, ear infections, and watering eyes due to narrow tear ducts are frequently associated. Radiologically patients present delayed bone age on wrist X-rays, platyspondyly, and broad metaphyses of humeri with dense and thickened growth plates.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-319195/","orphanet_url":"https://www.orpha.net/en/disease/detail/319195","names":{"fr":{"name":"Dysplasie chondroectodermique avec cécité nocturne","definition":"La dysplasie chondroectodermique avec cécité nocturne est un trouble génétique rare du développement osseux caractérisé par une petite taille proportionnée, une dysplasie unguéale (ongles élargis, convexes et hypertrophiques), une hypodontie et une cécité nocturne. Les signes les plus fréquemment associés sont une ostéopénie, une tendance à présenter des fractures, un pied bot varus avec une démarche anormale, des infections auriculaires, et des yeux larmoyants à cause de canaux lacrymaux étroits. Sur le plan radiologique, les patients présentent un retard de l'âge osseux (radiographie des poignets), une platyspondylie et de larges métaphyses humérales avec des plaques de croissance denses et épaissies."},"de":{"name":"Chondroektodermale Dysplasie mit Nachtblindheit","definition":"Chondroektodermale Dysplasie mit Nachtblindheit ist eine seltene genetische Störung der Knochenentwicklung, die sich durch proportionalen Kleinwuchs, Nageldysplasie (vergrößerte, konvexe, hypertrophe Nägel), Hypodontie und Nachtblindheit auszeichnet. Osteopenie, eine Tendenz zu Frakturen, Talipes varus mit abnormalem Gang, Ohrinfektionen und tränenden Augen aufgrund enger Tränenkanäle sind häufig assoziiert. Radiologisch gesehen zeigen Patienten ein verzögertes Knochenalter auf Handgelenk-Röntgenbildern, Platyspondylie, und breite Metaphysen der Humeri mit dichten und verdickten Wachstumsplatten."},"es":{"name":"Displasia condroectodérmica con ceguera nocturna","definition":"La displasia condroectodérmica con ceguera nocturna es un trastorno genético del desarrollo óseo poco frecuente caracterizado por talla baja proporcionada, displasia ungueal (uñas agrandadas, convexas, hipertróficas) hipodoncia y ceguera nocturna. Con frecuencia, está asociada a osteopenia, tendencia a fracturas, pie equinovaro con marcha anormal, infecciones auditivas y ojos llorosos debido al estrechamiento de los conductos lagrimales. Los afectados presentan retraso de la edad ósea en radiografías de muñeca, platiespondilia y metáfisis del húmero anchas con placas de crecimiento densas y engrosadas."},"it":{"name":"Displasia condroectodermica con cecità notturna","definition":"La displasia condroectodermica con cecità notturna è una malattia genetica rara dello sviluppo osseo, caratterizzata da statura proporzionatamente bassa, displasia delle unghie (unghie larghe, convesse e ipertrofiche), ipodontia e cecità notturna. I pazienti spesso presentano osteopenia, tendenza alle fratture, piedi torti associati ad anomalie della deambulazione, infezioni dell'orecchio e lacrimazione da stenosi dei dotti lacrimali. Le immagini radiologiche mostrano un'età ossea ritardata evidente alla radiografia del polso, platispondilia e metafisi omerali larghe con placche di crescita dense ed ispessite."},"nl":{"name":"Chondro-ectodermale dysplasie met nachtblindheid","definition":"Chondro-ectodermale dysplasie met nachtblindheid is een zeldzame, genetische botontwikkelingsstoornis die wordt gekarakteriseerd door een proportioneel kleine gestalte, nageldysplasie (vergrote, convexe, hypertrofische nagels), hypodontie en nachtblindheid. Osteopenie, een vatbaarheid voor fracturen, talipes varus met abnormale gang, oorinfecties, en tranende ogen door smalle traankanalen zijn regelmatig geassocieerd. Radiologisch vertonen patiënten een vertraagde botleeftijd bij een röntgenopname van de pols, platyspondylie, en brede metafyses van de humeri (opperarmbeenderen) met dense en verdikte groeiplaten."},"pt":{"name":"Displasia condroectodérmica com cegueira noturna"},"pl":{"name":"Dyspalazja chrzęstno-ektodermalna ze ślepotą nocną"},"cs":{"name":"Chondroektodermální dysplázie s noční slepotou"},"uk":{"name":"Хондроектодермальна дисплазія з нічною сліпотою","definition":"Chondroectodermal dysplasia with night blindness is a rare genetic bone development disorder characterized by proportionate short stature, nail dysplasia (enlarged, convex, hypertrophic nails), hypodontia and night blindness. Osteopenia, a tendency to present fractures, talipes varus with abnormal gait, ear infections, and watering eyes due to narrow tear ducts are frequently associated. Radiologically patients present delayed bone age on wrist X-rays, platyspondyly, and broad metaphyses of humeri with dense and thickened growth plates."},"zh":{"name":"软骨外胚层发育不良伴夜盲","definition":"软骨外胚层发育不良伴夜盲症是一种罕见的遗传性骨发育障碍，其特征是成比例的身材矮小、指甲发育不良（指甲增大、凸起、肥大）、牙缺失和夜盲症。骨质减少、骨折倾向、足内翻伴步态异常、耳部感染、泪管狭窄引起的流泪常与此相关。放射学上，患者腕关节X线片出现骨龄延迟，扁椎骨、肱骨干骺端骨质疏松，生长板稠密增厚。"},"tr":{"name":"Gece körlüğü ile seyreden kondroektodermal displazi"}},"xrefs":[{"source":"ICD-10","code":"Q77.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017869","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706300","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]},{"orpha":93446,"name":"Primary bone dysplasia with decreased bone density","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"22579605[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22579605[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-04-11","source":"22579605[PMID]","terms":[{"hpo":"HP:0006482","label":"Abnormal dental morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003045","label":"Abnormal patella morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001595","label":"Abnormality of the hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002815","label":"Abnormality of the knee","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008394","label":"Congenital onychodystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007642","label":"Congenital stationary night blindness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009926","label":"Epiphora","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002656","label":"Epiphyseal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008110","label":"Equinovarus deformity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003084","label":"Fractures of the long bones","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001812","label":"Hyperconvex fingernails","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030055","label":"Hyperconvex toenail","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100255","label":"Metaphyseal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003025","label":"Metaphyseal irregularity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008404","label":"Nail dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000388","label":"Otitis media","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008124","label":"Talipes calcaneovarus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003886","label":"Wide humerus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012542","label":"Onychauxis","frequency":"Occasional (29-5%)","criteria":null}]}}