autosomal dominant keratitis-ichthyosis-deafness syndrome

A syndrome characterized by congenital deafness, keratopachydermia and constrictions of fingers and toes that has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q.

Signs and symptoms

• Absent axillary hair
• Keratoconjunctivitis sicca
• Sparse eyebrow
• Photophobia
• Sparse eyelashes
• Absent pubic hair
• Keratitis
• Microdontia
• Ichthyosis
• Sensorineural hearing impairment

Also known as: autosomal dominant KID syndrome