otopalatodigital syndrome type 1

An otopalatodigital syndrome spectrum disorder characterized by cleft palate, mild skeletal anomalies including digital anomalies, and conductive deafness caused by ossicular anomalies that has_material_basis_in heterozygous or hemizygous mutation in exon 3, 4

An otopalatodigital syndrome spectrum disorder characterized by cleft palate, mild skeletal anomalies including digital anomalies, and conductive deafness caused by ossicular anomalies that has_material_basis_in heterozygous or hemizygous mutation in exon 3, 4, or 5 of the FLNA gene on chromosome Xq28.

Signs and symptoms

• Cleft palate
• Femoral bowing
• Toe syndactyly
• Limited elbow extension
• Mild intellectual disability
• Delayed closure of the anterior fontanelle
• Short hallux
• Nail dysplasia
• Narrow mouth
• Short nose

Also known as: OPD I syndrome; OPD syndrome 1; OPD1; Taybi syndrome; oto-palato-digital syndrome type 1