Recessive multiple epiphyseal dysplasia is a disorder of cartilage and bone development. This condition has relatively mild signs and symptoms, including joint pain, scoliosis, and malformations of the hands, feet, and knees.
Some affected individuals are born with an inward- and downward-turning foot (a clubfoot). An abnormality of the kneecap called a double-layered patella is also relatively common. Although some people with recessive multiple epiphyseal dysplasia have short stature as adults, most are of normal height.
This condition is inherited in an autosomal recessive pattern, the incidence is unknown as many cases are not diagnosed due to mild symptoms.
Mutations in the SLC26A2 gene cause recessive multiple epiphyseal dysplasia. Recessive multiple epiphyseal dysplasia is the mildest condition in a spectrum of skeletal disorders caused by mutations in the SLC26A2 gene. This gene provides instructions for making a protein that is essential for the normal development of cartilage and for its conversion to bone. Mutations in the SLC26A2 gene alter the structure of developing cartilage, preventing bones from forming properly and resulting in the skeletal problems characteristic of recessive multiple epiphyseal dysplasia.
New autosomal recessive polycystic kidney cell biology study findings have been reported from Mount Sinai School of Medicine.
May 19, 2008; Scientists discuss in 'Mechanoregulation of intracellular Ca2+ in human autosomal recessive polycystic kidney disease cyst-lining...
A novel HSF4 gene mutation (p.R405X) causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan.(Research article)(Clinical report)
Nov 11, 2008; Authors: Naheed Sajjad ; Ingrid Goebel [2,3]; Naseebullah Kakar ; Abdul Majeed Cheema ; Christian Kubisch [2,3]; Jamil...