spondyloepiphyseal dysplasia, Cantu type https://www.malacards.org/card/spondyloepiphyseal_dysplasia_brachydactyly_and_distinctive_speech UMLS:C2673649 OMIM:611717 MEDGEN:435975 DOID:0112287 tattoo dysplasia icd11.foundation:897226700 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). SED-BDS MESH:C567128 spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome Orphanet:163654 SCTID:718765003 GARD:0010629 MONDO:0012716 spondyloepiphyseal dysplasia