restrictive dermopathy 2

A restrictive dermopathy that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22.

Signs and symptoms

• Thickened skin
• Short clavicles
• Proptosis
• Rectal prolapse
• Hypoplastic facial bones
• Feeding difficulties
• Respiratory distress
• Gastroesophageal reflux
• Overtubulated long bones
• Scleroderma