Majewski's polydactyly syndrome

Majewski's polydactyly syndrome
Other names	Polydactyly with neonatal chondrodystrophy type I
This condition is inherited in an autosomal recessive manner

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. Associated anomalies include protruding abdomen, brachydactyly, peculiar faces, hypoplastic epiglottis, cardiovascular defects, renal cysts, and also genital anomalies. Death occurs before or at birth.^{[citation needed]}

The disease is inherited in an autosomal recessive pattern.^{[citation needed]}

It was characterized in 1971.^[1]

References

External links

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This page was last edited on 27 December 2023, at 08:02