Desbuquois dysplasia
Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity with multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. A variant form of DBQD, Kim variant, has also been described and is characterized by short stature and articular, minor facial and significant hand anomalies.
MONDO:0019700
obsolete primary bone dysplasia with multiple joint dislocations (obsolete MONDO:0019700)
excluded_subClassOf
MONDO:0005516
osteochondrodysplasia
is_a
MONDO:0019755
developmental defect during embryogenesis
is_a
DBQD
exact
Desbuquois dysplasia
exact
desbuquois syndrome
exact
micromelic dwarfism, narrow chest, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification
related