restrictive dermopathy lethal

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restrictive dermopathy lethal2016-11-08T14:42:07+00:00

restrictive dermopathy lethal 


Restrictive dermopathy lethal (lethal restrictive dermopathy) is 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 Defects of ZMPSTE24, which encodes a zinc metalloproteinase involved in the post-translational proteolytic cleavage of farnesylated prelamin A to form mature lamin A, cause restrictive dermopathy—lethal. 

Synonyms Fetal hypokinesis sequence due to restrictive dermopathy, hyperkeratosis—contracture syndrome, lethal tight skin contracture syndrome, tight skin contracture syndrome—lethal



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