Lethal congenital contracture syndrome type 3

Orpha code: 137783OMIM code: 614915

Definicja

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
Klasyfikacja

Malformation syndrome

Synonimy
LCCS3
LCCS3
Kod ORPHA
137783
Kod OMIM
614915
Kod ICD10
Q68.8
Kod ICD11
LD26.4Y

No additional description.

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