Various aspects of hearing loss in newborns: A narrative review

Table 1 Common causes of hereditary hearing loss

Type	Mode of inheritance	Gene or syndrome	Type of deafness	Laterality	Severity of deafness	Systemic disorders
Non-syndromic	Autosomal dominant	WFS1	Mostly SNHL	Uni- or bilateral	Variables	No
		TECTA	Mostly SNHL	Uni- or bilateral	Variables	No
		COCH	Mostly SNHL	Uni- or bilateral	Variables	No
		KNCQ4	Mostly SNHL	Uni- or bilateral	Variables	No
	Autosomal recessive	GJB2	Mostly SNHL	Uni- or bilateral	Variables	No
		SLC26A4	Mostly SNHL	Uni- or bilateral	Variables	No
		MYO15A	Mostly SNHL	Uni- or bilateral	Variables	No
		OTOF	Mostly SNHL	Uni- or bilateral	Variables	No
		CDH23	Mostly SNHL	Uni- or bilateral	Variables	No
		TMC1	Mostly SNHL	Uni- or bilateral	Variables	No
Syndromic	Autosomal dominant	Neurofibromatosis 2	High frequency SNHL	Bilateral	Mild to profound	Facial nerve paresis or paralysis; Tinnitus; Vertigo
		Branchio-oto-renal syndrome	Mixed (50%), Conductive (30), SNHL (20%)	Bilateral	Severe and progressive	Otological problems (e.g. cochlear dysplasia), Branchial anomalies e.g. lateral cervical fistulae, Renal such as agenesis
		Treacher Collins	Conductive; Sensorineural or mixed hearing loss less common	Unilateral or bilateral	Various severities	Craniofacial abnormalities such as hypoplastic facial bones and external auditory canal atresia
		Stickler syndrome	Conductive; SNHL; Mixed	Unilateral or bilateral	Various severities	Ophthalmological such as vitreous anomaly. Joint hypermobility; Craniofacial anomalies such as hypertelorism
		Waardenburg syndrome				Dystopia canthorum, heterochromia iridium, white forelock, synophrys, broad nasal root, hypoplasia of, the alae nasi, patent metopic suture line, and a square jaw
	Autosomal recessive	Pendred syndrome	SNHL			Goiter and a partial defect in iodide organification
		Jervell and Lange–Nielsen syndrome	SNHL		Severe to profound	Marked prolongation of the QT interval, and multiple syncopal attacks induced by exercise or emotion
		Usher syndrome	SNHL	Bilateral	Various severities	Vestibular dysfunction, retinitis pigmentosa
		Refsum disease	SNHL		Severe and progressive	Peripheral polyneuropathy; Cerebellar ataxia; Retinitis pigmentosa; Ichthyosis
	X-linked dominant	Alport syndrome	SNHL	Bilateral	Progressive	Hemorrhagic nephritis; Vision changes
	Mitochondrial	MELAS	SNHL	Bilateral	Progressive	Short stature; Nausea; Migraines; Seizures; Alternating hemiparesis; Hemianopia; Cortical blindness
		MERRF				Myoclonic epilepsy; Ataxia; Dementia; Optic atrophy; Short stature; Neuropathy

SNHL: Sensorineural hearing loss.