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Majewski's polydactyly syndrome

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Title: Majewski's polydactyly syndrome  
Author: World Heritage Encyclopedia
Language: English
Subject: Short rib – polydactyly syndrome, Growth disorders, Majewski, Schmid metaphyseal chondrodysplasia, Raine syndrome
Publisher: World Heritage Encyclopedia

Majewski's polydactyly syndrome

Majewski's polydactyly syndrome
Classification and external resources
OMIM 263520
DiseasesDB 32793

Majewski's polydactyly syndrome, also known as polydactyly with neonatal chondrodystrophy type I, short rib-polydactyly syndrome type II, and short 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. Associated anomalies include protruding abdomen, brachydactyly, peculiar faces, hypoplastic epiglottis, cardiovascular defects, renal cysts, and also genital anomalies. Death occurs before or at birth.

The disease is inherited in an autosomal recessive pattern.

It was characterized in 1971.[1]


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