Pierpont syndrome

An autosomal dominant intellectual developmental disorder that is characterized by distinctive facial characteristics, especially when smiling, plantar fat pads, and other limb anomalies and that has_material_basis_in heterozygous mutation in the TBL1XR1 gene

An autosomal dominant intellectual developmental disorder that is characterized by distinctive facial characteristics, especially when smiling, plantar fat pads, and other limb anomalies and that has_material_basis_in heterozygous mutation in the TBL1XR1 gene on chromosome 3q26.

Signs and symptoms

• Large fleshy ears
• Hearing impairment
• Prominent fingertip pads
• Short stature
• Hypotonia
• Deep palmar crease
• Short finger
• Smooth philtrum
• Intellectual disability
• High anterior hairline

Also known as: Plantar lipomatosis-facial dysmorphism-developmental delay syndrome; Plantar lipomatosis-unusual facies-developmental delay syndrome