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Majewski's polydactyly syndrome

Congenital Malformations and Chromosomal Abnormalities

Majewski's polydactyly syndrome, also known as short rib-polydactyly syndrome type II, is a lethal form of neonatal dwarfism marked by osteochondrodysplasia with a narrow thorax, polysyndactyly, disproportionately short tibiae, hypoplastic lungs and respiratory insufficiency. Associated anomalies include a protruding abdomen, brachydactyly, distinctive facial features, a hypoplastic epiglottis, cardiovascular defects, renal cysts and genital anomalies, and the disease is inherited in an autosomal recessive pattern with death occurring before or at birth.

Facts
Classification
Body System
Skeletal System 1
Body System
Cardiovascular System 1
Body System
Respiratory System 1
Body System
Urinary System 1
ICD-10 Chapter
XVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 2
Communicable or Non-communicable
Non-Communicable 3
Transmission Route
Non-Transmissible 1
Causative Agent
Causative Agent (category)
Genetic / Hereditary 1
First Described
1971 1
Sources
1. Wikipedia: Majewski's polydactyly syndrome
Wikipedia
  • Article text
    Death occurs before or at birth.The disease is inherited in an autosomal recessive pattern.
  • Article text - era-first-described
    It was characterized in 1971.
  • Lead section, body-system statement
    Majewski's polydactyly syndrome, also known as polydactyly with neonatal chondrodystrophy type I, short rib-polydactyly syndrome type II, and shorts rib-polydactyly syndrome, is a lethal form of neonatal dwarfism characterized by osteochondrodysplasia (skeletal abnormalities in the development of bone and cartilage) with a narrow thorax, polysyndactyly, disproportionately short tibiae, thorax dysplasia, hypoplastic lungs and respiratory insufficiency.
  • Lead section, transmission-route statement
    Death occurs before or at birth.The disease is inherited in an autosomal recessive pattern.
  • Lead section, body-system statement (respiratory)
    Majewski's polydactyly syndrome, also known as polydactyly with neonatal chondrodystrophy type I, short rib-polydactyly syndrome type II, and shorts rib-polydactyly syndrome, is a lethal form of neonatal dwarfism characterized by osteochondrodysplasia (skeletal abnormalities in the development of bone and cartilage) with a narrow thorax, polysyndactyly, disproportionately short tibiae, thorax dysplasia, hypoplastic lungs and respiratory insufficiency.
  • Lead section, body-system statement (urinary)
    Associated anomalies include protruding abdomen, brachydactyly, peculiar faces, hypoplastic epiglottis, cardiovascular defects, renal cysts, and also genital anomalies.
  • Lead section, body-system statement (cardiovascular)
    Associated anomalies include protruding abdomen, brachydactyly, peculiar faces, hypoplastic epiglottis, cardiovascular defects, renal cysts, and also genital anomalies.
View the Source
2. Wikipedia: ICD-10
WikipediaList of chapters, Chapter XVII
Quote, List of chapters, Chapter XVII
Congenital malformations, deformations and chromosomal abnormalities
View the Source
3. Wikipedia: Non-communicable disease
WikipediaInherited/genetic diseases section
Quote, Inherited/genetic diseases section
Genetic disorders are caused by errors in genetic information that produce diseases in the affected people.
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Wikidata: Majewski's polydactyly syndrome
Wikidata Q2753372, class allow-list match (w-wdresolver-0926)View the Source
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