spondyloepiphyseal dysplasia, Cantu type
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).
MONDO:0016761
spondyloepiphyseal dysplasia
is_a
SED-BDS
exact
spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome
exact
tattoo dysplasia
exact