Short rib-polydactyly syndrome
Encyclopedia
Short rib – polydactyly syndrome is a family of four closely related dysplasia
s:
Dysplasia
Dysplasia , is a term used in pathology to refer to an abnormality of development. This generally consists of an expansion of immature cells, with a corresponding decrease in the number and location of mature cells. Dysplasia is often indicative of an early neoplastic process...
s:
- I - "Saldino-Noonan type"
- II - "Majewski typeMajewski's polydactyly syndromeMajewski's polydactyly syndrome, also known as polydactyly with neonatal chondrodystrophy type I, short rib-polydactyly syndrome type I, and short rib-polydactyly syndrome, is a lethal form of neonatal dwarfism characterized by osteochondrodysplasia with a narrow thorax, polysyndactyly,...
" - III - "Verma-Naumoff type" (associated with DYNC2H1DYNC2H1Cytoplasmic dynein 2 heavy chain 1 is a protein that in humans is encoded by the DYNC2H1 gene.It is associated with Short rib-polydactyly syndrome type 3.It is also associated with Asphyxiating thoracic dysplasia.-Further reading:...
) - IV - "Beemer-Langer type"