lunes, 18 de abril de 2016

DOORS syndrome - Genetics Home Reference [BIBLIOTECA DE GENÉTICA APLICADA - DESÓRDENES GENÉTICOS que producen DEFECTOS DE LA AUDICIÓN Y SORDERA - NUEVO TÓPICO DE SALUD 2016]

DOORS syndrome - Genetics Home Reference

[BIBLIOTECA DE GENÉTICA APLICADA - DESÓRDENES GENÉTICOS que producen DEFECTOS DE LA AUDICIÓN Y SORDERA - NUEVO TÓPICO DE SALUD 2016]

Genetics Home Reference, Your Guide to Understanding Genetic Conditions

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

New on the MedlinePlus Hearing Disorders and Deafness page:
A photograph of an otoscope.
04/13/2016 02:59 PM EDT
Genetics Home Reference, Your Guide to Understanding Genetic Conditions
Source: National Library of Medicine - NIH
04/13/2016 02:39 PM EDT
Genetics Home Reference, Your Guide to Understanding Genetic Conditions
Source: National Library of Medicine - NIH
04/13/2016 02:39 PM EDT
Genetics Home Reference, Your Guide to Understanding Genetic Conditions
Source: National Library of Medicine - NIH
04/13/2016 02:39 PM EDT
Genetics Home Reference, Your Guide to Understanding Genetic Conditions
Source: National Library of Medicine - NIH
04/13/2016 02:39 PM EDT
Genetics Home Reference, Your Guide to Understanding Genetic Conditions
Source: National Library of Medicine - NIH
04/13/2016 02:39 PM EDT
Genetics Home Reference, Your Guide to Understanding Genetic Conditions
Source: National Library of Medicine - NIH
04/13/2016 02:39 PM EDT
Genetics Home Reference, Your Guide to Understanding Genetic Conditions
Source: National Library of Medicine - NIH
04/13/2016 02:39 PM EDT
Genetics Home Reference, Your Guide to Understanding Genetic Conditions
Source: National Library of Medicine - NIH
04/13/2016 02:39 PM EDT
Genetics Home Reference, Your Guide to Understanding Genetic Conditions
Source: National Library of Medicine - NIH
04/13/2016 02:39 PM EDT
Genetics Home Reference, Your Guide to Understanding Genetic Conditions
Source: National Library of Medicine - NIH
04/13/2016 02:39 PM EDT
Genetics Home Reference, Your Guide to Understanding Genetic Conditions
Source: National Library of Medicine - NIH
04/13/2016 02:39 PM EDT
Genetics Home Reference, Your Guide to Understanding Genetic Conditions
Source: National Library of Medicine - NIH
04/13/2016 02:39 PM EDT
Genetics Home Reference, Your Guide to Understanding Genetic Conditions
Source: National Library of Medicine - NIH
04/07/2016 12:00 PM EDT

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Getting young people to try them at venues might help stem 'epidemic' of ear damage, experts say
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Source: HealthDay
04/01/2016 03:08 PM EDT
Genetics Home Reference, Your Guide to Understanding Genetic Conditions
Source: National Library of Medicine - NIH
03/15/2016 04:39 PM EDT
Genetics Home Reference, Your Guide to Understanding Genetic Conditions
Source: National Library of Medicine - NIH
03/15/2016 04:39 PM EDT
Genetics Home Reference, Your Guide to Understanding Genetic Conditions
Source: National Library of Medicine - NIH
02/19/2016 03:32 PM EST
Genetics Home Reference, Your Guide to Understanding Genetic Conditions
Source: National Library of Medicine - NIH



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The primary NIH organization for research on Hearing Disorders and Deafness is the National Institute on Deafness and Other Communication Disorders

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Summary

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
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 aidscochlear implants, special training, certain medicines, and surgery.
NIH: National Institute on Deafness and Other Communication Disorders

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