Marden-Walker syndrome

Marden-Walker syndrome (MWS) "is comprised of blepharophimosis, microcephaly, micrognathia, multiple joint contractures, arachnodactyly, camptodactyly, kyphoscoliosis, and delayed motor development and is often associated with cystic dysplastic kidneys, dextrocardia, Dandy-Walker malformation, and agenesis of corpus callosum".cite journal
author=Badano JL, Mitsuma N, Beales PL, Katsanis N |title=The ciliopathies: an emerging class of human genetic disorders |journal=Annu Rev Genomics Hum Genet |volume=7 |issue= |pages=125–48 |year=2006 |pmid=16722803 |doi=10.1146/annurev.genom.7.080505.115610 |url=http://arjournals.annualreviews.org/doi/abs/10.1146/annurev.genom.7.080505.115610]

MWS is identified in the "Mendelian Inheritance in Man" database as OMIM3|248700.

Pathophysiology

Marden-Walker syndrome appears to be caused by a genetic defect which manifests as a dysfunctional molecular mechanism in the primary cilia structures of the cell. These organelles are present in many cellular types througout the human body. The cilia defects adversely affect "numerous critical developmental signaling pathways" essential to cellular development.

Relation to other rare disorders

The ciliopathic nature of the syndrome has indicated a potential relationship between MWS and many other genetic syndromes. Until recently, the medical literature did not indicate a connection among many genetic disorders, both genetic syndromes and genetic diseases, that are now being found to be related. As a result of new genetic research, some of these are, in fact, highly related in their root cause despite the widely-varying set of medical symptoms that are clinically visible in the disorders. Marden-Walker syndrome is one such disease, part of an emerging class of diseases called cilopathies. Genetic ciliopathy thus offers a plausible hypothesis for the multi-symptom nature of a large set of syndromes and diseases. Other known ciliopathies include primary ciliary dyskinesia, Bardet-Biedl syndrome, polycystic kidney and liver disease, nephronophthisis, Alstrom syndrome, Meckel-Gruber syndrome and some forms of retinal degeneration..

References

External links

*RareDiseases|6973|Marden-Walker syndrome
*RareDiseases|3382|Marden Walker like syndrome OMIM3|600920