lethal congenital contracture syndrome 3
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.
MONDO:0015161
multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a
MONDO:0017436
lethal congenital contracture syndrome
is_a
LCCS3
exact
PIP5K1C lethal congenital contracture syndrome
exact
lethal congenital contractural syndrome 3
exact
lethal congenital contracture syndrome 3
exact
lethal congenital contracture syndrome caused by mutation in PIP5K1C
exact
lethal congenital contracture syndrome type 3
exact
SPAC19G12.14