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.

单词	lethal tight skin contracture syndrome
释义	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.
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