Auditory System Disorders: Syndromic Hearing Loss

This set of vocabulary flashcards covers various auditory-related syndromes including their inheritance patterns, anatomical locations, clinical symptoms, and distinguishing features.

Usher Syndrome

The most common autosomal recessive disorder (type 1 is 90% of cases) involving the cochlea, characterized by progressive vision and hearing loss, and balance impact in type 3.

Pendred Syndrome

An autosomal recessive disorder of the inner ear (support cells and stria vascularis) featuring moderate to profound progressive HF HL, early onset, LVAS, goiter, and possible Mondini malformation.

Jervell and Lange-Nielsen Syndrome

An autosomal recessive cochlear disorder characterized by profound congenital cochlear hearing loss and cardiac abnormalities.

Biotnaise Deficiency

A condition affecting the cochlea and CNS involving inadequate biotin levels, SNHL, seizures, hypertonia, vestibular issues, and a scaly/red rash.

Refsum Disease

An autosomal recessive inner ear disorder involving bilateral progressive SNHL, poor coordination, muscle weakness, and retinitis pigmentosa.

Alport Syndrome

An X-linked cochlear disorder characterized by delayed onset bilateral, symmatric, progressive moderate to severe SHL by age 20, kidney dysfunction, eye issues, and hematuria.

Norrie Disease

An X-linked inner ear disorder involving delayed onset progressive SNHL, motor delays, intellectual disabilities, and severe eye disorders/blindness.

Waardenburg Syndrome

An autosomal dominant pigmentary disorder of the cochlea characterized by widely spaced eyes, a white forelock of hair, heterochromia, and continuous eyebrows.

Branchio-Oto-Renal Syndrome

An autosomal dominant disorder involving structural defects of the outer, middle, or inner ear, branchial fistulas, EVA, renal failure, and cup ear.

Stickler Syndrome

An autosomal dominant collagen defect of the middle and inner ear involving joint and eye problems, facial disorders, cleft palate, and Robin sequence (micrognathia, glossoptosis, cleft palate).

Neurofibromatosis Type II

An autosomal dominant retrocochlear disorder distinguished by bilateral vestibular schwannomas, cataracts, and progressive profound HL.

Treacher Collins Syndrome

An autosomal dominant disorder of the outer, middle, and inner ear featuring craniofacial abnormalities, Robin sequence, microtia, middle ear atresia, and colomba.

Apert Syndrome

An autosomal dominant disorder of the middle ear and cochlea characterized by a peaked head, webbed fingers/toes, hypertelorism, and malleus or incus fixations.

Trisomy 21

An autosomal dominant disorder (as per notes) of the middle ear and cochlea featuring a flattened skull, large tongue, bushfield spots, and predominately conductive hearing loss.

CHARGE Syndrome

An autosomal dominant disorder with symptoms including colomba, cardiovascular issues, atresia, retardation of growth, genitourinary issues, and cleft lip/palate.

Crouzon Syndrome

An autosomal dominant disorder of the outer or middle ear characterized by stenosis, atresia, ossicular malformations, proptosis, and dark/thick/velvety skin.