Saul-Wilson syndrome

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 the

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 the COG4 gene on chromosome 16q22.1.

Signs and symptoms

• Flared metaphysis
• Short stature
• Hypoplasia of the odontoid process
• Wide anterior fontanel
• Short metacarpal
• Short metatarsal
• Overtubulated long bones
• Cone-shaped epiphyses of the phalanges of the hand
• Prominent forehead
• Postnatal growth retardation

Also known as: SWILS; microcephalic osteodysplastic dysplasia, Saul-Wilson type