lethal congenital contracture syndrome 2
Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported.
MONDO:0015161
multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a
MONDO:0017436
lethal congenital contracture syndrome
is_a
ERBB3 lethal congenital contracture syndrome
exact
LCCS2
exact
lethal congenital contractural syndrome 2
exact
lethal congenital contracture syndrome 2
exact
lethal congenital contracture syndrome caused by mutation in ERBB3
exact
lethal congenital contracture syndrome type 2
exact
multiple contracture syndrome, Israeli Bedouin type
related
multiple contracture syndrome, Israeli-Bedouin type
exact