lethal tight skin contracture syndrome

lethal tight skin contracture syndrome

A rare autosomal recessive disorder (OMIM:275210) characterised by intrauterine growth retardation; tight and rigid skin with erosions, prominent superficial vasculature and epidermal hyperkeratosis; typical facies (small mouth, small pinched nose and micrognathia); sparse/absent eyelashes and eyebrows; mineralisation defects of the skull; thin, dysplastic clavicles; pulmonary hypoplasia; multiple joint contractures; and early death, typically within the first week of life.

Molecular pathology
Caused by defects of ZMPSTE24, which encodes a zinc metalloproteinase involved in the post-translational proteolytic cleavage of farnesylated prelamin A to form mature lamin A.