otopalatodigital syndrome type 2

An otopalatodigital syndrome spectrum disorder characterized by disabling skeletal anomalies and variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death in males and less severe phenotypes in females that

An otopalatodigital syndrome spectrum disorder characterized by disabling skeletal anomalies and variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death in males and less severe phenotypes in females that has_material_basis_in hemizygous or heterozygous mutation in exons 3, 4, or 5 in males or exons 28 or 29 in females of the FLNA gene on chromosome Xq28.

Signs and symptoms

• Femoral bowing
• Narrow mouth
• Ulnar bowing
• Cataract
• Spina bifida
• Intellectual disability
• Kyphoscoliosis
• Cleft palate
• Dilatation of the sinus of Valsalva
• Flat sella turcica

Also known as: Andre syndrome; OPD II syndrome; OPD syndrome 2; OPD2; faciopalatoosseous syndrome