Disease association ontology term - MONDO:0009670 - lethal congenital contracture syndrome 1

Term summary

ID

MONDO:0009670

Name

lethal congenital contracture syndrome 1

Ontology or CV name

Disease association

Definition

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.

Parents

• excluded_subClassOf obsolete non-syndromic respiratory or mediastinal malformation (obsolete MONDO:0015221)
• is_a syndromic disease
• is_a multiple congenital anomalies/dysmorphic syndrome without intellectual disability
• is_a thoracic malformation
• is_a lethal congenital contracture syndrome

Annotation