diastrophic dysplasia
Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips).
MONDO:0018232
obsolete primary bone dysplasia with micromelia (obsolete MONDO:0018232)
excluded_subClassOf
MONDO:0000226
mineral metabolism disease
is_a
MONDO:0005516
osteochondrodysplasia
is_a
MONDO:0019052
inborn errors of metabolism
is_a
MONDO:0100592
SLC26A2-related skeletal dysplasia
is_a
DD
related
DTD
related
diastrophic dysplasia
exact
SPCC320.05 SPAC869.05c SPBC3H7.02