lethal congenital contracture syndrome 1
Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies.
MONDO:0015221
obsolete non-syndromic respiratory or mediastinal malformation (obsolete MONDO:0015221)
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0015161
multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a
MONDO:0015929
thoracic malformation
is_a
MONDO:0017436
lethal congenital contracture syndrome
is_a
GLE1 lethal congenital contracture syndrome
exact
Herva disease
exact
LCCS1
exact
lethal autosomal recessive syndrome of multiple congenital contractures
related
lethal congenital contracture syndrome 1
exact
lethal congenital contracture syndrome caused by mutation in GLE1
exact
lethal congenital contracture syndrome type 1
exact
multiple contracture syndrome, Finnish type
exact
SPBC31E1.05