Cryptophthalmos-syndactyly syndrome
Cryptophthalmos-syndactyly syndrome is a rare genetic disorder characterized by the combination of cryptophthalmos, a condition where the eyelids fail to separate during fetal development, and syndactyly, a condition where two or more digits are fused together. This syndrome is also known as Fraser syndrome.
Etiology[edit | edit source]
Cryptophthalmos-syndactyly syndrome is caused by mutations in the FRAS1, FREM2, and GRIP1 genes. These genes are involved in the development of the skin and its appendages, including the eyelids and digits. Mutations in these genes disrupt the normal development process, leading to the characteristic features of the syndrome.
Clinical Features[edit | edit source]
The most distinctive feature of Cryptophthalmos-syndactyly syndrome is the presence of cryptophthalmos, where the eyelids are fused together, preventing the eyes from being seen. This can lead to severe visual impairment or blindness.
Syndactyly, the fusion of two or more digits, is another common feature of the syndrome. This can affect both the hands and feet, and can range from partial to complete fusion of the digits.
Other features of the syndrome can include microphthalmia (small eyes), micrognathia (small jaw), cleft palate, and renal agenesis (absence of one or both kidneys).
Diagnosis[edit | edit source]
Diagnosis of Cryptophthalmos-syndactyly syndrome is based on the presence of the characteristic clinical features. Genetic testing can confirm the diagnosis by identifying mutations in the FRAS1, FREM2, or GRIP1 genes.
Treatment[edit | edit source]
Treatment for Cryptophthalmos-syndactyly syndrome is symptomatic and supportive. This can include surgical correction of the eyelids and digits, as well as management of any associated conditions such as renal agenesis.
Prognosis[edit | edit source]
The prognosis for individuals with Cryptophthalmos-syndactyly syndrome varies depending on the severity of the symptoms and the presence of associated conditions. With appropriate management, individuals with the syndrome can lead fulfilling lives.
See Also[edit | edit source]
NIH genetic and rare disease info[edit source]
Cryptophthalmos-syndactyly syndrome is a rare disease.
| Cryptophthalmos-syndactyly syndrome Resources | |
|---|---|
|
 |
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
