distal arthrogryposis type 5

A distal arthrogryposis characterized by distal arthrogryposis with ocular abnormalities that has_material_basis_in heterozygous gain of function mutation in the PIEZO2 gene on chromosome 18p11.22-p11.21.

Signs and symptoms

• Hypermetropia
• Short stature
• Limited wrist extension
• Reduced forced expiratory volume in one second
• High palate
• Duane anomaly
• Exercise intolerance
• Exertional dyspnea
• Hyporeflexia
• Decreased facial expression

Also known as: DA5; DAIIB; arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome; distal arthrogryposis type IIB; distal arthrogryposis with ophthalmoplegia