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- Das Kenny-Caffey-Syndrom (KCS) ist eine sehr seltene angeborene Skelettdysplasie mit charakteristischer Einengung des Markraumes der langen Röhrenknochen und Hypokalzämie. Synonyme sind: Kenny-Syndrom; Kenny-Linarelli-Syndrom; Tubuläre Stenose; Medulläre Stenose der Röhrenknochen; englisch dwarfism, cortical thickening of tubular bones & transient hypocalcemia. Die Erstbeschreibung stammt aus dem Jahre 1966 durch die US-amerikanischen Kinderärzte Frederic M. Kenny und Louis Linarelli. Im Folgejahr beschrieb der Kinderradiologe John Caffey (1895–1978) die radiologischen Veränderungen der beiden Originalpatienten. (de)
- Kenny-Caffey syndrome type 2 (KCS2) is an extremely rare autosomal dominant genetic condition characterized by dwarfism, hypermetropia, microphthalmia, and skeletal abnormalities. This subtype of Kenny-Caffey syndrome is caused by a heterozygous mutation in the FAM111A gene (615292) on chromosome 11q12. This condition is extremely rare, as fewer than 60 confirmed cases have been reported in medical literature. KCS2 affects males and females in equal proportions, and is most often sporadic. However it can be transmitted by an affected mother to their offspring, like in the original family described by Kenny and Caffey. Other genetic variants in the same gene FAM111A may produce the related, but more severe disorder, osteocraniostenosis. The condition was originally described by Frederic Kenny and Louis Linarelli in 1966 in a mother and her son. In 1967, John Caffey, a pediatric radiologist, described the radiographic aspects of the same family. The condition was since called the Kenny-Caffey Syndrome. A somewhat similar, but recessively inherited condition known as Kenny-Caffey Syndrome Type 1 (KCS1) also exists. This recessive condition includes intellectual disability as a common symptom (unlike KCS2), and is also known as the Sanjad-Sakati syndrome or Hypoparathyroidism-Retardation-Dysmorphism Syndrome. (en)
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- Adult Chinese twins who are affected by the common symptoms of Kenny-Caffey Syndrome (en)
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- Adult Chinese twins who are affected by the common symptoms of Kenny-Caffey Syndrome (en)
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- Type 2: Caused by heterozygous mutation in the FAM111A gene on chromosome 11q12. (en)
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- Extremely rare: Fewer than 60 cases reported in medical literature (en)
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- Kenny-Caffey Syndrome Type 2 (en)
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- Is inherited and phenotypically present at birth (en)
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- Dwarfism, Cortical Thickening of Tubular Bones, and Transient Hypocalcemia (en)
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- Vitamin D, calcium, and iron supplements (en)
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- Das Kenny-Caffey-Syndrom (KCS) ist eine sehr seltene angeborene Skelettdysplasie mit charakteristischer Einengung des Markraumes der langen Röhrenknochen und Hypokalzämie. Synonyme sind: Kenny-Syndrom; Kenny-Linarelli-Syndrom; Tubuläre Stenose; Medulläre Stenose der Röhrenknochen; englisch dwarfism, cortical thickening of tubular bones & transient hypocalcemia. (de)
- Kenny-Caffey syndrome type 2 (KCS2) is an extremely rare autosomal dominant genetic condition characterized by dwarfism, hypermetropia, microphthalmia, and skeletal abnormalities. This subtype of Kenny-Caffey syndrome is caused by a heterozygous mutation in the FAM111A gene (615292) on chromosome 11q12. (en)
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- Kenny-Caffey-Syndrom (de)
- Kenny-Caffey syndrome (en)
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- Kenny-Caffey Syndrome Type 2 (KCS2) (en)
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