multiple epiphyseal dysplasia type 4
Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum.
MONDO:0000226
mineral metabolism disease
is_a
MONDO:0016648
multiple epiphyseal dysplasia
is_a
MONDO:0019052
inborn errors of metabolism
is_a
MONDO:0100592
SLC26A2-related skeletal dysplasia
is_a
EDM4
exact
MED4
exact
Polyepiphyseal dysplasia type 4
exact
Recessive Multiple Epiphyseal Dysplasia
exact
SLC26A2 multiple epiphyseal dysplasia (disease)
exact
autosomal recessive multiple epiphyseal dysplasia
exact
epiphyseal dysplasia multiple 4
related
epiphyseal dysplasia, multiple, 4
related
epiphyseal dysplasia, multiple, type 4
exact
multiple epiphyseal dysplasia (disease) caused by mutation in SLC26A2
exact
multiple epiphyseal dysplasia 4
related
multiple epiphyseal dysplasia with double-layered patella
related
rMED
exact
SPBC3H7.02 SPAC869.05c SPCC320.05