About: Camurati–Engelmann disease

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Camurati–Engelmann disease (CED) is a very rare autosomal dominant genetic disorder that causes characteristic anomalies in the skeleton. It is also known as progressive diaphyseal dysplasia. It is a form of dysplasia. Patients typically have heavily thickened bones, especially along the shafts of the long bones (called diaphyseal dysplasia). The skull bones may be thickened so that the passages through the skull that carry nerves and blood vessels become narrowed, possibly leading to sensory deficits, blindness, or deafness.

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rdf:type	Thing Disease yago:WikicatAutosomalDominantDisorders yago:WikicatSkeletalDisorders yago:Abstraction100002137 yago:Attribute100024264 yago:AutosomalDominantDisease114162025 yago:Condition113920835 yago:Disease114070360 yago:Disorder114052403 yago:GeneticDisease114151139 yago:IllHealth114052046 yago:Illness114061805 yago:PathologicalState114051917 yago:PhysicalCondition114034177 yago:WikicatGeneticDisorders disease yago:State100024720 yago:WikicatExtracellularLigandDisorders
rdfs:label	Camurati–Engelmann disease (en) داء كاموراتي إنغلمان (ar) Engelmann-Syndrom (de) Νόσος Καμουράτι-Ένγκελμαν (el) Syndrome de Camurati-Engelmann (fr) Sindrome di Camurati-Engelmann (it) Choroba Camuratiego-Engelmanna (pl)
rdfs:comment	Das Engelmann-Syndrom (nach Theodor Wilhelm Engelmann) ist eine seltene Form der Osteosklerose und durch eine generalisierte Knochenhypertrophie mit zunehmender Knochenverhärtung bei gleichzeitiger Verminderung der Knochenbelastbarkeit gekennzeichnet. Prinzipiell ist dieses Syndrom autosomal-dominant vererbbar, tritt aber häufig sporadisch auf. (de) La sindrome di Camurati-Engelmann, conosciuta anche col nome inglese Camurati-Engelmann Disease (CED), è una malattia genetica rara che causa anomalie nello sviluppo delle ossa; il nome deriva da quello di due medici che la studiarono nei primi anni del XX secolo. Solitamente i primi sintomi della malattia si manifestano in gioventù. (it) Choroba Camuratiego-Engelmanna (in. postępująca dysplazja trzonów, postępująca sklerotyzująca dysplazja trzonów kości długich, postępująca dysplazja kości długich; ang. Camurati–Engelmann disease, CED, CAEND) – genetycznie uwarunkowany zespół wad wrodzonych dziedziczony autosomalnie dominująco. Charakteryzuje się postępującym przerostem nasad kości długich, bólami kończyn dolnych, chodem kaczkowatym oraz nużliwością (szybkim zmęczeniem i osłabieniem) mięśni szkieletowych, bez objawów niepełnosprawności intelektualnej. (pl) داء كاموراتي إنغلمان (سي إي دي) هو اضطراب وراثي جسمي سائد نادر جدًا يسبب تشوهات مميزة في الهيكل العظمي. يعدّ شكل من أشكال خلل التنسج. يُعرف أيضًا باسم خلل التنسج الجَدْلِيّ التدريجي. عادة ما يكون لدى المرضى عظام سميكة بشكل كبير، خاصةً جسم العظم للعظام الطويلة. قد تتسمك عظام الجمجمة بحيث تسبّب تضيق على مسار الأعصاب والأوعية الدموية ضمن الجمجمة، ما قد يسبب عجز حسي أو عمى أو صمم. (ar) Η Νόσος Καμουράτι-Ένγκελμαν είναι μια σπάνια αυτοσωμική γενετική διαταραχή που προκαλεί χαρακτηριστικές ανωμαλίες στον σκελετό. Είναι γνωστή και ως προοδευτική διαφυσιακή δυσπλασία. Αποτελεί μια μορφή δυσπλασίας. Οι ασθενείς έχουν συνήθως πυκνά οστά, ειδικά κατά μήκος των άκρων των οστών (τα οποία ονομάζονται διαφυσιακή δυσπλασία). Τα οστά του κρανίου μπορεί να είναι τόσο πυκνά έτσι ώστε να μειωθούν σημαντικά οι δίοδοι που μεταφέρουν τα νεύρα και τα αιμοφόρα αγγεία διαμέσου του κρανίου, ή ακόμα και να καταλήξουν σε τύφλωση ή κώφωση. (el) Camurati–Engelmann disease (CED) is a very rare autosomal dominant genetic disorder that causes characteristic anomalies in the skeleton. It is also known as progressive diaphyseal dysplasia. It is a form of dysplasia. Patients typically have heavily thickened bones, especially along the shafts of the long bones (called diaphyseal dysplasia). The skull bones may be thickened so that the passages through the skull that carry nerves and blood vessels become narrowed, possibly leading to sensory deficits, blindness, or deafness. (en) Le syndrome de Camurati-Engelmann est une formation excessive d'os impliquant le crâne et les os longs s'accompagnant de douleurs importantes et de faiblesse musculaire.Des modifications de la face comme des bosses frontales, une augmentation de volume de la mâchoire et une paralysie faciale peuvent se voir tard et dans les formes sévères.La variabilité de cette maladie est grande même dans la même fratrie.La taille et l'intelligence sont normales. (fr)
foaf:name	Camurati–Engelmann disease (en)
name	Camurati–Engelmann disease (en)
foaf:depiction
dcterms:subject	Rare diseases Autosomal dominant disorders Skeletal disorders Extracellular ligand disorders
Wikipage page ID	16019019 (xsd:integer)
Wikipage revision ID	1057764955 (xsd:integer)
Link from a Wikipage to another Wikipage	Scoliosis Nerve Blindness Human skull Deafness Dysplasia John Belluso Spleen Childhood Genetic disorder Ghost Whisperer TGFB1 Liver Skeleton Autosomal dominant CBS Tibia Flat feet Disease Rare diseases Autosomal dominant disorders Skeletal disorders Blood vessel Winter Extracellular ligand disorders Long bone Skull Myopathy Osteosclerosis Bone shaft Glucocorticosteroid
Link from a Wikipage to an external page	https://www.ncbi.nlm.nih.gov/books/NBK1156/%7Cwebsite=GeneReviews%7Cpublisher=University https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi%3Fbook=gene&part=ced https://ghr.nlm.nih.gov/condition/camurati-engelmann-disease
sameAs	Camurati–Engelmann disease Camurati–Engelmann disease Camurati–Engelmann disease Camurati–Engelmann disease Camurati–Engelmann disease Camurati–Engelmann disease Camurati–Engelmann disease Camurati–Engelmann disease Camurati–Engelmann disease Camurati–Engelmann disease
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thumbnail	wiki-commons:Special:FilePath/Autosomal_dominant_-_en.svg?width=300
DiseasesDB	4301 (xsd:integer)
ICD	756.590000 (xsd:double)

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