Hand-foot-genital syndrome
Hand-foot-genital 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 Hand-foot-genital syndrome
- Wikipedia's article - Hand-foot-genital 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) is a rare genetic disorder that affects the development of the hands and feet, the urinary system, and the reproductive system. The term "hand-foot-genital syndrome" is derived from the Latin words "manus" (hand), "pes" (foot), and "genitalis" (relating to reproduction).
Symptoms
The symptoms of hand-foot-genital syndrome can vary greatly from person to person. However, common symptoms include limb malformations, such as short thumbs and big toes that may be bent away from the other digits (hallux valgus), and abnormalities of the urinary system, such as hydronephrosis or vesicoureteral reflux. Females with this condition may also have abnormalities of the reproductive system, such as a bicornuate uterus or a septate uterus.
Causes
Hand-foot-genital syndrome is caused by mutations in the HOXA13 gene. This gene provides instructions for making a protein that plays a key role in the development of the limbs, urinary system, and reproductive system. Mutations in the HOXA13 gene disrupt the normal development of these body systems, leading to the features of hand-foot-genital syndrome.
Diagnosis
Diagnosis of hand-foot-genital syndrome is based on the presence of characteristic signs and symptoms. Genetic testing can confirm a diagnosis by identifying a mutation in the HOXA13 gene.
Treatment
Treatment for hand-foot-genital syndrome is symptomatic and supportive. This may include physical therapy for limb abnormalities, surgery to correct severe malformations, and regular monitoring of the urinary and reproductive systems.
See also
External links
- Medical encyclopedia article on Hand-foot-genital syndrome
- Wikipedia's article - Hand-foot-genital 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