ablepharon macrostomia syndrome

A syndrome characterized by ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, dry and coarse skin or redundant folds of skin, absent or sparse hair, genital malformations and developmental delay and that has_material_basis_in h

A syndrome characterized by ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, dry and coarse skin or redundant folds of skin, absent or sparse hair, genital malformations and developmental delay and that has_material_basis_in heterozygous mutation in the TWIST2 gene on chromosome 2q37.

Signs and symptoms

• Microtia, first degree
• Sparse hair
• Wide mouth
• Hypoplastic labia majora
• Absent lanugo
• Hypertelorism
• Ablepharon
• Thin skin
• Absent eyebrow
• Dry skin