Spondyloepiphyseal dysplasia, MacDermot type

Definition

Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness.

Also known as spondyloepiphyseal dysplasia-myopia-sensorineural deafness syndrome — per MONDO

Also identified as

• MESH C566659 per MONDO
• OMIM 184000 per MONDO
• Orphanet 163668 per MONDO
• UMLS C1866719 per MONDO