What is it?
Examples include:
Gene related conditions
[please note: Genetic causes of hearing loss (not always present at birth- may develop later)]:
- Autosomal recessive disorder (Both parents who are carriers of the recessive genes responsible and can cause a 25% chance of their sibling getting this condition)
- If both parents are carriers, a child has a 25 percent chance of inheriting two recessive genes (and getting FMF), a 50 percent chance of getting one dominant and one recessive gene (and becoming a carrier), and a 25 percent chance of getting two dominant genes (and remaining unaffected).
Examples include:
- Acrocephalopolysyndactyly disorders (Apert syndrome, Pfeiffer syndrome, Chotzen syndrome, Carpenter syndrome)
- Alport Syndrome
- Branchio-Oto-Renal syndrome
- X-linked Charcot Marie Tooth
- CHARGE syndrome
- C – Eye coloboma
- H – congenital heart defects
- A – choanal atresia-At birth where nasal passages are blocked by bone or tissue.
- R – retardation of growth/development
- G – genital anomalies
- E – ear anomalies/deafness.
- Cornelia de Lange syndrome
- Coffin-Siris syndrome
- Cogan’s syndrome
- Barakat Syndrome (hypoparathyroidism, eyes, ears, kidney, psoriasis)
- Bartter’s syndrome/Gitelman syndrome (affect kidney, ear, muscles)
- Bjornstad syndrome (ear, hair loss)
- Xeroderma Pigmentosum (De Sanctis-Cacchione syndrome)
- DiGeorge Syndrome
- DOORS syndrome (abnormal nails, hearing loss, seizures)
- Downs syndrome
- East syndrome (affect kidney,ear, movement)
- Fountain syndrome (abnormal swelling of cheeks and lips)
- Goodpasture’s syndrome (affect ear, respiratory, kidney)
- Goldenhar disease/syndrome (which affects eye, ear, and spine development)
- Human HOXA1 syndromes (Athabaskan Native Americans, Middle East)
- Jervell and Lange-Nielsen Syndrome– sensorineural hearing loss, cardiac arrhythmias and fainting.
- Johanson-Blizzard syndrome
- Kabuki syndrome
- KAT6B-related disorders
- Klippel-Feil syndrome
- Marshall syndrome
- Mayer-Rokitansky-Küster-Hauser syndrome
- MN1 C-terminal truncation syndrome
- Mondini syndrome-where the cochlea is incomplete, it is associated with Pendred Syndrome, DiGeorge Syndrome, Klippel Feil Syndrome, Fountain Syndrome, Wildervanck Syndrome, CHARGE syndrome, and certain chromosomal trisomies.
- Mohr-Tranebjaerg Syndrome (DFN-1)-sensorineural hearing loss that begins in childhood (usually after a child has learned how to speak) and gets progressively worse, movement problems (involuntary muscle contractions) and/or difficulty swallowing.
- Muckle-Wells syndrome
- Muenke syndrome
- Myhre syndrome
- Norrie Disease
- Homozygous OSMED
- Pendred Syndrome – hearing loss in both ears along with thyroid problems (goiter)
- Perrault syndrome
- PHACE syndrome
- Primary distal renal tubular acidosis
- Rosenberg-Chutorian syndrome
- SeSAME syndrome- Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance- low pottasium)
- Smith-Magenis syndrome
- Sotos syndrome
- Stickler syndrome
- Treacher Collins syndrome
- Trichorhinophalangeal syndrome type II (Langer-Giedion syndrome)
- Turners Syndrome
- Waardenburg syndrome – [hearing loss this syndrome can cause eye problems and abnormalities in the pigment (colour) of the hair and eyes]
- Wildervanck syndrome
- Abnormal union or fusion of two or more bones of the spinal column (vertebrae) within the neck (Klippel-Feil syndrome)
- Impairment or absence of certain eye (ocular) movements (Duane syndrome)
- Hearing impairment
- Williams-Beuren syndrome
- Usher Syndrome – (hearing loss, loss of balance and dizziness and vision loss)
Detailed Information
Please copy and paste any key words from the title: Ear Conditions in the following respective 'Medtick References and/or Sources' to find out more about the disease (this also may include diagnosis tests and generic medical treatments).
- NHS
Find information and advice on health conditions, symptoms, healthy living, medicines and how to get help (British National Health Service).
- Medscape
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- Pharmaceutical Journal
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- Healthline
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- Medical News Today
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- WebMD
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- Cleveland Clinic
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- Mayo Clinic
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- Drugs.com
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- National Organisation of Rare Diseases
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- Verywell Health
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- Fit for Travel
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- DR Axe
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