Marden–Walker syndrome

Marden-Walker syndrome
Classification and external resources
OMIM	248700

Marden–Walker syndrome (MWS) is a rare autosomal recessive congenital disorder.^[1][2] It is characterized by 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".^[3]

Pathophysiology

Though the pathomechanism of Marden-Walker syndrome is unknown, it may 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 throughout the human body. The cilia defects adversely affect "numerous critical developmental signaling pathways" essential to cellular development^[3].

Genetics

Marden-Walker syndrome has an autosomal recessive pattern of inheritance.

MWS is inherited in an autosomal recessive manner.^[2] This means the defective gene responsible for the disorder is located on an autosome, and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.

References

1. ^ Online 'Mendelian Inheritance in Man' (OMIM) 248700
2. ^ ^{a b} Ben‐Neriah, Z.; Yagel, S.; Ariel, I. (Jul 1995). "Renal anomalies in Marden-Walker syndrome: A clue for prenatal diagnosis". American Journal of Medical Genetics 57 (3): 417–419. doi:10.1002/ajmg.1320570310. PMID 7677143.  edit
3. ^ ^{a b} Badano JL, Mitsuma N, Beales PL, Katsanis N (2006). "The ciliopathies: an emerging class of human genetic disorders". Annu Rev Genomics Hum Genet 7: 125–148. doi:10.1146/annurev.genom.7.080505.115610. PMID 16722803. http://arjournals.annualreviews.org/doi/abs/10.1146/annurev.genom.7.080505.115610. 

External links

• Marden-Walker syndrome at NIH's Office of Rare Diseases
• Marden Walker like syndrome at NIH's Office of Rare Diseases OMIM: 600920