Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia).
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