Catalog

Spondyloepiphyseal dysplasia, Cantu type

No MMS code

Link to WHO Definition

Spondyloepiphyseal dysplasia, Cantu type – http://id.who.int/icd/entity/897226700

Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date and characterised 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).