Disease association ontology term - MONDO:0012656 - lethal congenital contracture syndrome 3

Term summary

ID

MONDO:0012656

Name

lethal congenital contracture syndrome 3

Ontology or CV name

Disease association

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.

Parents

• is_a multiple congenital anomalies/dysmorphic syndrome without intellectual disability
• is_a lethal congenital contracture syndrome

Annotation