/lethal congenital contracture syndrome 3

lethal congenital contracture syndrome 3

Rare Disease

MONDO:0012656

Also Known As

Israeli Bedouin type B multiple contracture syndromeLCCS3PIP5K1C lethal congenital contracture syndromelethal congenital contractural syndrome 3lethal congenital contracture syndrome 3lethal congenital contracture syndrome caused by mutation in PIP5K1Clethal congenital contracture syndrome type 3multiple contracture syndrome, Israeli Bedouin type B

Definition

Lethal congenital contracture syndrome type 3 is a rare arthrogryposis syndrome characterized by clinical features identical to Lethal congenital contracture syndrome type 2 (i.e. multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cells degeneration, skeletal muscle atrophy (mainly in the lower limbs), in the absence of hydrops, pterygia or bone fractures), but without bladder enlargement.