short-rib thoracic dysplasia 6 with or without polydactyly
A group of rare, autosomal recessive inherited disorders characterized by a constricted thoracic cage, short ribs, and a 'trident' appearance of the acetabular roof. Polydactyly may or may not be present. Other abnormalities include cleft lip and palate and abnormalities of the brain, eye, heart, liver, pancreas, intestine, kidney, and genitalia.
MONDO:0018770
Jeune syndrome
is_a
MONDO:0019662
short rib-polydactyly syndrome, Majewski type
is_a
Majewski syndrome
exact
SRPS2A
exact
SRTD6
exact
polydactyly with neonatal chondrodystrophy type II
exact
short rib-polydactyly syndrome type II
exact
short-rib thoracic dysplasia 6 with or without polydactyly
exact