About: Boomerang dysplasia

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Boomerang dysplasia is a lethal form of osteochondrodysplasia known for a characteristic congenital feature in which bones of the arms and legs are malformed into the shape of a boomerang. Death usually occurs in early infancy due to complications arising from overwhelming systemic bone malformations. Osteochondrodysplasias are skeletal disorders that cause malformations of both bone and cartilage.

Attributes	Values
rdf:type	Thing Disease yago:WikicatAutosomalDominantDisorders yago:WikicatCongenitalDisorders yago:Abnormality114501726 yago:Abstraction100002137 yago:Anomaly114505821 yago:Attribute100024264 yago:AutosomalDominantDisease114162025 yago:BirthDefect114465048 yago:Condition113920835 yago:Defect114464005 yago:Disease114070360 yago:GeneticDisease114151139 yago:IllHealth114052046 yago:Illness114061805 yago:Imperfection114462666 yago:PathologicalState114051917 yago:PhysicalCondition114034177 disease yago:State100024720 umbel-rc:AilmentCondition
rdfs:label	Bumerang-Dysplasie (de) Boomerang dysplasia (en)
rdfs:comment	Die Bumerang-Dysplasie ist eine sehr seltene angeborene Erkrankung mit schwerwiegender Knochenbeteiligung. Sie gehört zu den letal verlaufenden Skelettdysplasien. Die Bezeichnung bezieht sich auf die ungewöhnliche Deformierung hauptsächlich der Oberschenkelknochen und wurde 1983 erstmals in einem Bericht des italienischen Kinderradiologen A. Tenconi verwendet. (de) Boomerang dysplasia is a lethal form of osteochondrodysplasia known for a characteristic congenital feature in which bones of the arms and legs are malformed into the shape of a boomerang. Death usually occurs in early infancy due to complications arising from overwhelming systemic bone malformations. Osteochondrodysplasias are skeletal disorders that cause malformations of both bone and cartilage. (en)
foaf:depiction
dct:subject	Congenital disorders Rare diseases Autosomal dominant disorders
Wikipage page ID	16892227 (xsd:integer)
Wikipage revision ID	1046794221 (xsd:integer)
Link from a Wikipage to another Wikipage	FLNB Mutation Bone Boomerang Cytoplasm Cytoskeleton Ulna Infant Inheritance Limb (anatomy) Pelvis Brachydactyly Osteochondrodysplasia Chondrocyte Actin Tibia Dwarfism Femur Fibula Ossification Cell membrane Vertebral column Protein Radius (bone) Congenital disorders Rare diseases Atelosteogenesis type I Arm Autosomal dominant disorders Larsen syndrome Autosome Human leg Dominance relationship Ilium (bone) Cartilage Recessive Long bone Congenital Malformation X-linked dbr:Wikt:micromelia dbr:Wikt:sporadic
sameAs	Boomerang dysplasia Boomerang dysplasia Boomerang dysplasia Boomerang dysplasia Boomerang dysplasia
SNOMED CT	254054000 (xsd:integer)
dbp:wikiPageUsesTemplate	dbt:Cytoskeletal_defects dbt:Citation_needed dbt:Cn dbt:Empty_section dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:Reflist dbt:Osteochondrodysplasia
thumbnail	wiki-commons:Special:FilePath/Autosomal_dominant_-_en.svg?width=300
ICD	754.440000 (xsd:double) (en) Q68.5 (en)
OMIM	112310 (xsd:integer)
Orphanet	1263 (xsd:integer)
caption	Boomerang dysplasia has an autosomal dominant pattern of inheritance. (en)
synonyms	Dwarfism with short, bowed, rigid limbs and characteristic facies (en)
has abstract	Die Bumerang-Dysplasie ist eine sehr seltene angeborene Erkrankung mit schwerwiegender Knochenbeteiligung. Sie gehört zu den letal verlaufenden Skelettdysplasien. Die Bezeichnung bezieht sich auf die ungewöhnliche Deformierung hauptsächlich der Oberschenkelknochen und wurde 1983 erstmals in einem Bericht des italienischen Kinderradiologen A. Tenconi verwendet. (de) Boomerang dysplasia is a lethal form of osteochondrodysplasia known for a characteristic congenital feature in which bones of the arms and legs are malformed into the shape of a boomerang. Death usually occurs in early infancy due to complications arising from overwhelming systemic bone malformations. Osteochondrodysplasias are skeletal disorders that cause malformations of both bone and cartilage. (en)
gold:hypernym	Form
dbp:wordnet_type	http://www.w3.org/2006/03/wn/wn20/instances/synset-disease-noun-1

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