About: Dauwerse-Peters syndrome

An Entity of Type: disease, from Named Graph: http://dbpedia.org, within Data Space: dbpedia.org

Dauwerse-Peters syndrome, also known as Short stature, facial dysmorphism, severe brachydactyly and syndactyly, is an extraordinarily rare novel genetic disorder which is characterized by a short height, depressed nasal bridge, flat facies, upward-slanting eyes, mild nostril anteversion, low-set ears, broad nasal root, severe generalized hand brachydactyly and 2nd-3rd toe syndactyly. Additional features include infertility due to azoospermia, radial and ulnar dysplasia, and pedal symphalangism. This disorder is extremely rare, since only 1 case has been reported in medical literature. This condition is caused by a chromosomal translocation.

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dbo:abstract
  • Dauwerse-Peters syndrome, also known as Short stature, facial dysmorphism, severe brachydactyly and syndactyly, is an extraordinarily rare novel genetic disorder which is characterized by a short height, depressed nasal bridge, flat facies, upward-slanting eyes, mild nostril anteversion, low-set ears, broad nasal root, severe generalized hand brachydactyly and 2nd-3rd toe syndactyly. Additional features include infertility due to azoospermia, radial and ulnar dysplasia, and pedal symphalangism. This disorder is extremely rare, since only 1 case has been reported in medical literature. This condition is caused by a chromosomal translocation. (en)
dbo:alias
  • (en)
  • Short stature, facial dysmorphism, severe brachydactyly and syndactyly (en)
dbo:wikiPageID
  • 70918666 (xsd:integer)
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  • 3823 (xsd:nonNegativeInteger)
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  • 1108787651 (xsd:integer)
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dbp:causes
  • Translocation of 4q12 and 6p23. (en)
dbp:deaths
  • - (en)
dbp:frequency
  • extraordinarily rare, only 1 case has been reported in medical literature (en)
dbp:name
  • Dauwerse-Peters syndrome (en)
dbp:prevention
  • none (en)
dbp:prognosis
  • Ok (en)
dbp:specialty
dbp:synonyms
  • Short stature, facial dysmorphism, severe brachydactyly and syndactyly (en)
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dcterms:subject
rdf:type
rdfs:comment
  • Dauwerse-Peters syndrome, also known as Short stature, facial dysmorphism, severe brachydactyly and syndactyly, is an extraordinarily rare novel genetic disorder which is characterized by a short height, depressed nasal bridge, flat facies, upward-slanting eyes, mild nostril anteversion, low-set ears, broad nasal root, severe generalized hand brachydactyly and 2nd-3rd toe syndactyly. Additional features include infertility due to azoospermia, radial and ulnar dysplasia, and pedal symphalangism. This disorder is extremely rare, since only 1 case has been reported in medical literature. This condition is caused by a chromosomal translocation. (en)
rdfs:label
  • Dauwerse-Peters syndrome (en)
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