A spondyloepimetaphyseal dysplasia that is characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation.
Comprehensive, easy-to-understand information about this condition
Checking for content...
hip dysplasia, Beukes type
MONDO:0007726
spondyloepiphyseal dysplasia with congenital joint dislocations
MONDO:0007738
Marshall syndrome
MONDO:0007949
metatropic dysplasia
MONDO:0007986
spondyloepiphyseal dysplasia with punctate corneal dystrophy
MONDO:0008470
spondyloepiphyseal dysplasia, MacDermot type
MONDO:0008472