Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech
Alternate names
SED-BDS; Fantasy Island syndrome; Tattoo dysplasia
Definition
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).
NIH genetic and rare disease info
Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech is a rare disease.
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