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DOOR (deafness, onychodystrophy, osteodystrophy, and mental retardation) syndrome is a genetic disease which is inherited in an autosomal recessive fashion. DOOR syndrome is characterized by mental retardation , sensorineural deafness , abnormal nails and phalanges of the hands and feet, and variable seizures .
Nonsyndromic deafness is hearing loss that is not associated with other signs and symptoms. In contrast, syndromic deafness involves hearing loss that occurs with abnormalities in other parts of the body. Nonsyndromic deafness constitutes 75% of all hearing loss cases, and an estimated 100 genes are thought to be linked to this condition.
The HPO has collected information on symptoms demonstrated in medical resources. The HPO ID helps access more information about the symptom. [citation needed] However, there are additional possible signs and symptoms of OASD that are not listed by HPO such as the following: [3] Adult-onset sensorineural hearing impairment; Albinism; Depigmented ...
Waardenburg syndrome has multiple different types with some variations in symptoms, and symptoms can vary among those with the same type. The two features consistent across all types of Waardenburg syndrome are some degree of congenital sensorineural hearing loss and some degree of pigmentation deficiencies, most consistently in the eyes. [11]
Prelingual hearing loss can be considered congenital, present at birth, or acquired, occurring after birth before the age of one. Congenital hearing loss can be a result of maternal factors (rubella, cytomegalovirus, or herpes simplex virus, syphilis, diabetes), infections, toxicity (pharmaceutical drugs, alcohol, other drugs), asphyxia, trauma, low birth weight, prematurity, jaundice, and ...
Hutchinson triad is a triad of signs that may be seen in late congenital syphilis, including: interstitial keratitis, malformed teeth (Hutchinson incisors and mulberry molars), and eighth nerve deafness. [1] [2] Late congenital syphilis typically manifests after 2 years of age. [3]
The most common type of congenital hearing loss in developed countries is DFNB1, also known as connexin 26 deafness or GJB2-related deafness. The most common dominant syndromic forms of hearing loss include Stickler syndrome and Waardenburg syndrome. The most common recessive syndromic forms of hearing loss are Pendred syndrome and Usher syndrome.
All three types of otitis media may be associated with hearing loss. [2] [3] If children with hearing loss due to OME do not learn sign language, it may affect their ability to learn. [8] The cause of AOM is related to childhood anatomy and immune function. [4] Either bacteria or viruses may be involved. [4]