Microcephalic osteodysplastic dysplasia, Saul-Wilson type

Definition

A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that has material basis in heterozygous mutation in COG4 on chromosome 16q22.1.

Also known as microcephalic osteodysplastic dysplasia, microcephalic osteodysplastic dysplasia, Saul-Wilson type, Saul-Wilson syndrome, SWILS — per MONDO

Also identified as

• DOID 0111673 per MONDO
• OMIM 618150 per MONDO
• Orphanet 85172 per MONDO
• UMLS C4509877 per MONDO