geleophysic dysplasia 3

A geleophysic dysplasia that has_material_basis_in heterozygous mutation in the LTBP3 gene on chromosome 11q13.1.

Signs and symptoms

• Brachydactyly
• Short stature
• Hoarse voice
• Bulbous nose
• Round face
• Subglottic stenosis
• Limited elbow movement
• Limited wrist movement
• Short foot
• Thickened skin

Also known as: GPHYSD3