Freeman-Sheldon syndrome
A very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis.
MONDO:0002254
syndromic disease
is_a
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0008779
arthrogryposis
is_a
MONDO:0015161
multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a
MONDO:0019942
distal arthrogryposis
is_a
Craniocarpotarsal dysplasia
exact
Craniocarpotarsal dystrophy
exact
DA2A
related
FSS
related
Freeman Sheldon Syndrome
exact
Freeman Sheldon syndrome
exact
Freeman-Sheldon syndrome
exact
arthrogryposis distal type 2A
related
arthrogryposis, distal, type 2A
related
arthrogryposis, distal, type 2A (Freeman-Sheldon)
exact
cranio-carpo-tarsal syndrome
exact
craniocarpotarsal dysplasia
exact
craniocarpotarsal dystrophy
exact
distal arthrogryposis type 2A
exact
whistling face syndrome
exact
whistling face-windmill vane hand syndrome
exact
whistling-face syndrome
exact
windmill-vane-hand syndrome
exact
SPAC4A8.05c SPCC645.05c