Last update 19 Sep 2024

Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech

Basic Info

Synonyms
FANTASY ISLAND SYNDROME, Fantasy Island Syndrome, SED-BDS
+ [10]
Introduction
An extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date with clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet.

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