Aarskog syndrome
Alternate names[edit | edit source]
Faciodigitogenital syndrome (FGDY), faciogenital dysplasia, Aarskog disease, Scott Aarskog syndrome
Symptoms[edit | edit source]
Broad hands and feet, wide set eyes, low set ears, drooping lower lip[1]
Causes[edit | edit source]
Genetic (X-linked recessive)
An x-linked condition associated in a subset of cases with mutation(s) in the fgd1 gene, encoding a complex signaling protein containing fyve, rhogef, and ph domains.
Clinical features[edit | edit source]
The condition is usually characterized by distinctive facial features, short stature, skeletal anomalies, shawl scrotum (altered anatomical relationship between the penis and the scrotum) cryptorchidism, and developmental delay.
What are x-linked conditions?[edit | edit source]
X-linked recessive inheritance relates to conditions associated with mutations in genes on the X chromosome.
How are x-linked conditions inherited?[edit | edit source]
- A male carrying such a mutation will be affected, because he carries only one X chromosome.
- A female carrying a mutation in one gene, with a normal gene on the other X chromosome, is generally unaffected.
External links[edit | edit source]
- NIH info on Aarskog syndrome
- Rare diseases info on Aarskog syndrome
- Medline plus on Aarskog syndrome
- Aarskog–Scott syndrome, detailed up-to-date information in OMIM (Online Mendelian Inheritance in Man)
| Aarskog syndrome Resources | |
|---|---|
|
 |
- ↑ Cite error: Invalid
<ref>tag; no text was provided for refs namedGARD2018
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD
|
WikiMD's Wellness Encyclopedia |
| Let Food Be Thy Medicine Medicine Thy Food - Hippocrates |
Translate this page: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
தமிழ்,
తెలుగు,
Urdu,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
বাংলা
European
español,
Deutsch,
français,
Greek,
português do Brasil,
polski,
română,
русский,
Nederlands,
norsk,
svenska,
suomi,
Italian
Middle Eastern & African
عربى,
Turkish,
Persian,
Hebrew,
Afrikaans,
isiZulu,
Kiswahili,
Other
Bulgarian,
Hungarian,
Czech,
Swedish,
മലയാളം,
मराठी,
ਪੰਜਾਬੀ,
ગુજરાતી,
Portuguese,
Ukrainian
Medical Disclaimer: WikiMD is not a substitute for professional medical advice. The information on WikiMD is provided as an information resource only, may be incorrect, outdated or misleading, and is not to be used or relied on for any diagnostic or treatment purposes. Please consult your health care provider before making any healthcare decisions or for guidance about a specific medical condition. WikiMD expressly disclaims responsibility, and shall have no liability, for any damages, loss, injury, or liability whatsoever suffered as a result of your reliance on the information contained in this site. By visiting this site you agree to the foregoing terms and conditions, which may from time to time be changed or supplemented by WikiMD. If you do not agree to the foregoing terms and conditions, you should not enter or use this site. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.
Contributors: Prab R. Tumpati, MD
