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Majewski's polydactyly syndrome

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Medical condition
Majewski's polydactyly syndrome
Other namesPolydactyly 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.The disease is inherited in an autosomal recessive pattern.

It was characterized in 1971.

References

  1. 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.

External links

ClassificationD
Osteochondrodysplasias
Osteodysplasia/
osteodystrophy
Diaphysis
Metaphysis
Epiphysis
Osteosclerosis
Other/ungrouped
Chondrodysplasia/
chondrodystrophy
(including dwarfism)
Osteochondroma
Chondroma/enchondroma
Growth factor receptor
FGFR2:
FGFR3:
COL2A1 collagen disease
SLC26A2 sulfation defect
Chondrodysplasia punctata
Other dwarfism
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