Syndromic Hearing Loss

​​​Syndromic Hearing Loss occurs with other symptoms of medical importance . There are more than 400 syndromes that have been identified that include hearing loss.

Autosomal Dominant

Waardenburg Syndrome

  • Most common type of autosomal dominant syndromic hearing loss
  • May be in one (unilateral) or both (bilateral) ears
  • Sensorineural
  • Features may show pigmentary changes including premature graying hair, white forelock, two different-colored eyes (heterochromia irides, usually bright blue and brown eyes), and partial albinism
  • Facial features may include fused eyebrows (synophrys), widely-spaced eyes (hypertelorism seen in Type I), high nasal bridge, and under-developed nose tip (hypoplastic alae nasia)

More about Waardenburg Syndrome

Branchio-Oto-Renal (BOR) Syndrome

  • Hearing loss is conductive, sensorineural or mixed
  • Face may have cysts (or pits), often in front of the ears (preauricular)
  • Neck may have a cyst or sinus (branchial cleft)
  • Ears commonly have structural changes in the outer, middle, or inner ear, and may show enlarged vestibular aqueducts
  • Renal (kidney) problems may be non-existent, mild or even life threatening
  • Changes in at least 3 genes have been found to cause BOR Syndrome

More about Branchio-Oto-Renal Syndrome

Stickler Syndrome

  • Hearing loss may be conductive, sensorineural, or mixed and may be progressive
  • Facial features may include: small jaw (micrognathia) with cleft palate (Pierre Robin sequence), under-developed midface
  • The eyes and some forms of Stickler may have severe and progressive near-sightedness (myopia), cataracts & retinal detachment
  • Other findings may include bone/joint disorders, early adult-onset arthritis, and middle ear bone (ossicular) malformations
  • Changes in 6 genes are known; all are related to altered expression of a collagen/connective tissue gene
  • Types IV, V, & VI are less common and are inherited as autosomal recessive conditions

More about Stickler Syndrome

CHARGE Syndrome

  • Hearing loss may be mixed, conductive or sensorineural
  • CHARGE is mnemonic for Colobomas (missing portion of the eye), Heart defects, Atresia (narrowing) of the choanae (the opening of the skull to the nose), Retardation of growth and development, Genital abnormalities and Ear changes
  • 4 unique findings aiding in diagnosis are coloboma, choanael atresia, cranial nerve problems and unusually-shaped ears
  • Hearing loss may be conductive, sensorineural or mixed and range from mild to profound
  • Changes in the CHD7 gene cause the majority of cases

More about CHARGE Syndrome

Treacher-Collins Syndrome

  • Hearing loss is conductive
  • Striking facial features include under-developed cheek bones (malar hypoplasia), absent/malformed outer ears, absent (atresia) or narrow (stenosis) ear canals, skin tags in front of the ear (preauricular), notching (coloboma of the lower eyelids and absence of lower eyelashes)
  • Occasional features include cleft palate or cleft lip and choanal (the opening of the skull to the nose) narrowing or blockage
  • Changes in 3 genes are known to cause Treacher-Collins

More about Treacher-Collins Syndrome

Neurofibromatosis Type II (NFII) 

  • Hearing loss is progressive, sensorineural sometimes resulting in deafness
  • Bilateral (both sides) vestibular schwannomas (tumor) develop by 30 years of age
  • Other tumors may also grow
  • Cataracts rarely cause vision problems but can aid in diagnosis

More about Neurofibromatosis Type II

Autosomal Recessive

Usher Syndrome

Usher Syndrome is the most common type of autosomal recessive syndromic hearing loss. Usher Syndrome usually results in hearing loss and vision loss due to retinitis pigmentosa (RP). However, not all cases Usher Syndrome lead to both hearing loss and vision loss.

  • Type I
    • Caused by multiple autosomal recessive gene pairs
    • Congenital, profound, sensorineural hearing loss
    • Severe balance (vestibular) dysfunction problems
    • Little or no benefit from hearing aid use
  • Type II
    • Caused by multiple autosomal recessive gene pairs
    • Moderate to severe hearing loss at birth
    • Downward-sloping, sensorineural hearing loss
    • No balance (vestibular) problems
  • Type III
    • Caused by one autosomal recessive gene pair
    • Normal hearing at birth
    • With later onset of progressive, sensorineural hearing loss
    • Variable balance (vestibular) dysfunction problem

More information about Usher Syndrome from NIDCD

Pendred Syndrome

  • Second most common type of recessive syndromic hearing loss.
  • In most cases hearing loss is sensorineural and may be progressive
  • Enlarged vestibular aqueduct is always seen
  • Other inner ear malformations (Mondini malformation) may be present
  • Balance dysfunction is present in most cases
  • May be an associated enlarged thyroid gland (goiter)

More information about Pendred Syndrome from NIDCD

Jervell and Lange-Nielson Syndrome (JL-N)

  • Third most common type of recessive syndromic hearing loss
  • The bilateral, profound sensorineural hearing loss is present at birth
  • The other major finding in JL-N is an abnormal heart rhythm (long Q-T), which could lead to fainting spells and possible sudden death
  • Abnormal heart rhythms may be successfully treated with medications.
  • Mutations in two gene pairs are known to cause the condition

More information about Jervell and Lange-Nielsen Syndrome

X-Linked (Sex-Linked)

Alport Syndrome

  • Hearing loss is progressive and sensorineural
  • Other features include kidney problems (nephritis), near-sightedness (myopia) or cataracts which typically do not cause vision loss
  • May be X-linked (due to an altered gene on the X chromosome), autosomal recessive or autosomal dominant depending on which gene is involved and the specific mutation or mutations

More about Alport Syndrome

X-Linked Congenital Stapes Fixation with Perilymph Gusher

  • Hearing loss in males is mixed and may be progressive
  • Female carriers may have mild, mixed or sensorineural hearing loss
  • Risk of further hearing loss if middle ear surgery is performed to correct the stapes fixation because the surgery may result in sudden loss of inner ear fluid (perilymph)

Mitochondrial

Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-Like Episodes (MELAS)

  • Some cases present with profound sensorineural hearing loss.
  • Highly variable symptoms may include intermittent vomiting, limb weakness, stroke-like episodes, partial paralysis, partial blindness, seizures, migraine-like headaches, diabetes, short stature, heart problems and kidney problems.

Maternally Inherited Diabetes and Deafness (MIDD)

  • Hearing loss is sensorineural and often found in the high frequencies
  • Diabetes

Kearns-Sayre Syndrome (KSS)

  • Hearing loss is bilateral and sensorineural
  • Other findings include unsteady gait (ataxia), short stature, delayed puberty, progressive paralysis of the eye muscles (ophthalmoplegia) and progressive blindness (retinopathy)

Myoclonic Epilepsy and Ragged Red Fibers (MERRF)

  • Hearing loss is sensorineural of varying degree
  • Other findings include unsteady gait (ataxia), epilepsy, and possible blindness (optic atrophy)