Lethal congenital contracture syndrome type 3

Orpha code: 137783OMIM code: 614915

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.

Disease data
Classification

Malformation syndrome

Synonyms
LCCS3
LCCS3
ORPHA code
137783
OMIM code
614915
ICD10 code
Q68.8
ICD11 code
LD26.4Y

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl