CHILD syndrome
CHILD Syndrome
CHILD Syndrome (== Template:IPA ==
The Template:IPA (International Phonetic Alphabet) is a system of phonetic notation based primarily on the Latin alphabet. It was devised by the International Phonetic Association in the late 19th century as a standardized representation of the sounds of spoken language.
Pronunciation
The pronunciation of the term "IPA" is /aɪ piː eɪ/ in English.
Etymology
The term "IPA" is an acronym for the International Phonetic Alphabet. The International Phonetic Association, founded in 1886, created the IPA to provide a single, universal system for the transcription of spoken language.
Related Terms
- Phonetic notation: A system used to visually represent the sounds of speech. The IPA is one type of phonetic notation.
- Phonetics: The study of the physical sounds of human speech. It is concerned with the physical properties of speech sounds (phonemes), and the processes of their physiological production, auditory reception, and neurophysiological perception.
- Phonology: The study of the way sounds function within a particular language or languages. While phonetics concerns the physical production, acoustic transmission and perception of the sounds of speech, phonology describes the way sounds function within a particular language or languages.
- Transcription (linguistics): The systematic representation of spoken language in written form. The source of the words transcribe and transcription, the term means "to write across" in Latin, and it's the process of converting spoken language into written form. In linguistics, this is often done using the IPA.
External links
- Medical encyclopedia article on CHILD syndrome
- Wikipedia's article - CHILD syndrome
This WikiMD dictionary article is a stub. You can help make it a full article.
Languages: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
Urdu,
বাংলা,
తెలుగు,
தமிழ்,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
European
español,
Deutsch,
français,
русский,
português do Brasil,
Italian,
polski), an acronym for Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects, is a rare genetic disorder that affects the development of several parts of the body. The name of the condition indicates some of its main features: Congenital (present from birth) Hemidysplasia (one side of the body is different from the other) with Ichthyosiform Erythroderma (red, scaly skin) and Limb Defects.
Etymology
The term "CHILD" is an acronym derived from the main features of the syndrome. It was first described in the medical literature by German dermatologist Hermann Werner Siemens in 1980.
Symptoms
The symptoms of CHILD Syndrome can vary greatly among affected individuals. They may include Ichthyosis (a condition that causes dry, thickened skin), Hemidysplasia (underdevelopment of one side of the body), and limb abnormalities such as underdeveloped or missing limbs. Some individuals may also have intellectual disabilities or seizures.
Causes
CHILD Syndrome is caused by mutations in the NSDHL gene. This gene provides instructions for making an enzyme that is involved in the production of cholesterol. Mutations in the NSDHL gene disrupt the normal production of cholesterol, leading to the symptoms of CHILD Syndrome.
Diagnosis
Diagnosis of CHILD Syndrome is based on the presence of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests. Genetic testing can confirm a diagnosis.
Treatment
Treatment of CHILD Syndrome is symptomatic and supportive. It may include skin care to manage ichthyosis, physical therapy to improve mobility, and surgery to address limb abnormalities.
See Also
External links
- Medical encyclopedia article on CHILD syndrome
- Wikipedia's article - CHILD syndrome
This WikiMD dictionary article is a stub. You can help make it a full article.
Languages: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
Urdu,
বাংলা,
తెలుగు,
தமிழ்,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
European
español,
Deutsch,
français,
русский,
português do Brasil,
Italian,
polski