Conditions / Musculoskeletal
spondyloepiphyseal dysplasia-brachydactyly and distinctive speech
info · Musculoskeletal
A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia, brachydactyly, and distinctive speech.
Signs and symptoms
- Delayed epiphyseal ossification
- Tapered metacarpals
- Upslanted palpebral fissure
- Long philtrum
- Carpal bone hypoplasia
- Short foot
- Anteverted nares
- Thoracic hypoplasia
- Brachydactyly
- Flexion contracture
Also known as: Fantasy Island syndrome; SED-BDS; SED-brachydactyly and distinctive speech; Tattoo dysplasia; spondyloepiphyseal dysplasia, Cantu type