Majewski's polydactyly syndrome
| Majewski's polydactyly syndrome | |
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| Other names: Majewsk syndrome[1] Polydactyly with neonatal chondrodystrophy type I | |
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| This condition is inherited in an autosomal recessive manner | |
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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.[2]
References
- ↑ "Short rib-polydactyly syndrome, Majewski type - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Archived from the original on 23 November 2021. Retrieved 6 July 2022.
- ↑ Majewski, F.; Pfeiffer; Lenz; Müller; Feil; Seiler (1971). "Polysyndactyly, short limbs, and genital malformations--a new syndrome?". Zeitschrift für Kinderheilkunde. 111 (2): 118–138. doi:10.1007/BF00446428. PMID 4331366. S2CID 24792013. Archived from the original on 2022-07-10. Retrieved 2022-05-31.
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