[BIBLIOTECA DE GENÉTICA APLICADA - DESÓRDENES GENÉTICOS que producen DEFECTOS DE LA AUDICIÓN Y SORDERA - NUEVO TÓPICO DE SALUD 2016]
DOORS syndrome
DOORS syndrome is a disorder involving multiple abnormalities that are present from birth (congenital). "DOORS" is an abbreviation for the major features of the disorder including deafness;short or absent nails (onychodystrophy); short fingers and toes (osteodystrophy); developmental delay and intellectual disability (previously called mental retardation); and seizures. Some people with DOORS syndrome do not have all of these features.
Most people with DOORS syndrome have profound hearing loss caused by changes in the inner ears (sensorineural deafness). Developmental delay and intellectual disability are also often severe in this disorder.
The nail abnormalities affect both the hands and the feet in DOORS syndrome. Impaired growth of the bones at the tips of the fingers and toes (hypoplastic terminal phalanges) account for the short fingers and toes characteristic of this disorder. Some affected individuals also have an extra bone and joint in their thumbs, causing the thumbs to look more like the other fingers (triphalangeal thumbs).
The seizures that occur in people with DOORS syndrome usually start in infancy. The most common seizures in people with this condition are generalized tonic-clonic seizures (also known as grand mal seizures), which cause muscle rigidity, convulsions, and loss of consciousness. Affected individuals may also have other types of seizures, including partial seizures, which affect only one area of the brain and do not cause a loss of consciousness; absence seizures, which cause loss of consciousness for a short period that appears as a staring spell; or myoclonic seizures, which cause rapid, uncontrolled muscle jerks. In some affected individuals the seizures increase in frequency and become more severe and difficult to control, and a potentially life-threatening prolonged seizure (status epilepticus) can occur.
Other features that can occur in people with DOORS syndrome include an unusually small head size (microcephaly) and facial differences, most commonly a wide, bulbous nose. A narrow or high arched roof of the mouth (palate), broadening of the ridges in the upper and lower jaw that contain the sockets of the teeth (alveolar ridges), or shortening of the membrane between the floor of the mouth and the tongue (frenulum) have also been observed in some affected individuals. People with DOORS syndrome may also have dental abnormalities, structural abnormalities of the heart or urinary tract, and abnormally low levels of thyroid hormones (hypothyroidism). Most affected individuals also have higher-than-normal levels of a substance called 2-oxoglutaric acid in their urine; these levels can fluctuate between normal and elevated.
Hearing Disorders and Deafness Update
MedlinePlus sent this bulletin at 04/14/2016 01:11 PM EDTNew on the MedlinePlus Hearing Disorders and Deafness page:
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Source: National Library of Medicine -
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Source: National Library of Medicine -
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Source: National Library of Medicine -
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Source: National Library of Medicine -
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Source: National Library of Medicine -
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Source: National Library of Medicine -
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Source: National Library of Medicine -
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Source: National Library of Medicine -
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Source: National Library of Medicine -
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04/07/2016 12:00 PM EDT
Researchers say more study needed to learn how hearing aids, other interventions might save money
Source: HealthDay
04/07/2016 12:00 PM EDT
Getting young people to try them at venues might help stem 'epidemic' of ear damage, experts say
Source: HealthDay
04/01/2016 03:08 PM EDT
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03/15/2016 04:39 PM EDT
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02/19/2016 03:32 PM EST
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It's frustrating to be unable to hear well enough to enjoy talking with friends or family. Hearing disorders make it hard, but not impossible, to hear. They can often be helped. Deafness can keep you from hearing sound at all.
What causes hearing loss? Some possibilities are
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There are two main types of hearing loss. One happens when your inner ear or auditory nerve is damaged. This type is usually permanent. The other kind happens when sound waves cannot reach your inner ear. Earwax build-up, fluid, or a punctured eardrum can cause it. Treatment or surgery can often reverse this kind of hearing loss.
Untreated, hearing problems can get worse. If you have trouble hearing, you can get help. Possible treatments include hearing aids, cochlear implants, special training, certain medicines, and surgery.
NIH: National Institute on Deafness and Other Communication Disorders
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- Speech-to-Speech Relay Service (Federal Communications Commission) - PDFAvailable in Spanish
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- Noise-Induced Hearing Loss (National Institute on Deafness and Other Communication Disorders)Available in Spanish
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- Genetics Home Reference: 3MC syndrome (National Library of Medicine)
- Genetics Home Reference: Alström syndrome (National Library of Medicine)
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- Genetics Home Reference: Björnstad syndrome (National Library of Medicine)
- Genetics Home Reference: branchiootorenal/branchiootic syndrome (National Library of Medicine)
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- Genetics Home Reference: craniometaphyseal dysplasia (National Library of Medicine)
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- Genetics Home Reference: DOORS syndrome (National Library of Medicine)
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- Genetics Home Reference: Pendred syndrome (National Library of Medicine)
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- Genetics Home Reference: SOST-related sclerosing bone dysplasia (National Library of Medicine)
- Genetics Home Reference: Stickler syndrome (National Library of Medicine)
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- Do You Need a Hearing Test? (National Institute on Deafness and Other Communication Disorders)Available in Spanish
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(OR-Live) - Hartford Hospital, Hartford, CT, 1/17/2008 - Hearing and the cochlea - EncyclopediaAvailable in Spanish
- How Loud Is Too Loud? (National Institute on Deafness and Other Communication Disorders)Available in Spanish
- Protecting Your Hearing (National Institute on Deafness and Other Communication Disorders)
- Travel Inside the Ear (National Institute on Deafness and Other Communication Disorders)Available in Spanish
- Quick Statistics (National Institute on Deafness and Other Communication Disorders)
- ClinicalTrials.gov: Deafness (National Institutes of Health)
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- About Hearing (Gallaudet University, Laurent Clerc National Deaf Education Center)
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- American Speech-Language-Hearing Association
- Directory of Organizations (Deafness and Communication Disorders) (National Institute on Deafness and Other Communication Disorders)
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- Age-Related Hearing Loss (National Institute on Deafness and Other Communication Disorders)Available in Spanish
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