ENT diseases (Ear, Nose, and Throat diseases)

Familial nasal cilia loss is a rare genetic disorder characterized by the absence or dysfunction of cilia in the nasal cavity, leading to impaired mucus clearance and recurrent respiratory infections. It may be part of primary ciliary dyskinesia disorders, such as Kartagener syndrome.

Genetic malformations of the ear, nose, and throat are congenital disorders caused by genetic mutations affecting the development of these structures. These abnormalities include auditory canal atresia, microtia, nasal septum deformities, and vocal cord paralysis, potentially impacting breathing, hearing, or speech.

Congenital anosmia is a rare disorder characterized by the inability to smell from birth, caused by underdevelopment of the olfactory bulb or genetic mutations affecting olfactory receptors. It may occur in isolation or as part of syndromes like Kallmann syndrome.

Genetic deafness is hearing loss caused by inherited genetic mutations affecting the development of the inner ear or the function of auditory hair cells. It can be congenital (present at birth) or progressive and may occur in isolation or as part of syndromes like Usher syndrome or Waardenburg syndrome.