Verloes–Gillerot–Fryns syndrome
Verloes–Gillerot–Fryns Syndrome
Verloes–Gillerot–Fryns syndrome is a rare genetic disorder characterized by a combination of congenital anomalies, including craniofacial dysmorphism, skeletal abnormalities, and developmental delay. This syndrome is named after the researchers who first described it, Pierre Verloes, G. Gillerot, and Jean-Pierre Fryns.
Clinical Features[edit | edit source]
Patients with Verloes–Gillerot–Fryns syndrome typically present with a distinct set of clinical features. These may include:
- Craniofacial Dysmorphism: This includes features such as a broad forehead, hypertelorism (increased distance between the eyes), a flat nasal bridge, and a small chin.
- Skeletal Abnormalities: These can include short stature, brachydactyly (short fingers and toes), and other limb anomalies.
- Developmental Delay: Affected individuals often exhibit delays in reaching developmental milestones, intellectual disability, and learning difficulties.
- Other Anomalies: Some patients may have congenital heart defects, renal anomalies, or other organ system involvement.
Genetics[edit | edit source]
Verloes–Gillerot–Fryns syndrome is believed to be inherited in an autosomal recessive manner. This means that an affected individual must inherit two copies of the mutated gene, one from each parent. The specific genetic mutation responsible for the syndrome has not been definitively identified, and research is ongoing to better understand the genetic basis of this condition.
Diagnosis[edit | edit source]
Diagnosis of Verloes–Gillerot–Fryns syndrome is primarily based on clinical evaluation and the identification of characteristic features. Genetic testing may be used to rule out other conditions with overlapping symptoms. A detailed family history can also be helpful in assessing the risk of recurrence in future pregnancies.
Management[edit | edit source]
There is no cure for Verloes–Gillerot–Fryns syndrome, and treatment is supportive and symptomatic. Management may involve:
- Multidisciplinary Care: Involving specialists such as pediatricians, geneticists, cardiologists, and developmental therapists.
- Early Intervention: Programs to support developmental progress and learning.
- Surgical Interventions: For correcting specific anatomical anomalies, such as heart defects.
Prognosis[edit | edit source]
The prognosis for individuals with Verloes–Gillerot–Fryns syndrome varies depending on the severity of symptoms and the presence of associated anomalies. Early diagnosis and intervention can improve quality of life and developmental outcomes.
Also see[edit | edit source]
Genetic disorders relating to deficiencies of transcription factor or coregulators | ||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
NIH genetic and rare disease info[edit source]
Verloes–Gillerot–Fryns syndrome is a rare disease.
Rare and genetic diseases | ||||||
---|---|---|---|---|---|---|
Rare diseases - Verloes–Gillerot–Fryns syndrome
|
Syndromes | ||||||||||
---|---|---|---|---|---|---|---|---|---|---|
This syndrome related article is a stub.
|
Transform your life with W8MD's budget GLP1 injections from $125
W8MD offers a medical weight loss program NYC and a clinic to lose weight in Philadelphia. Our W8MD's physician supervised medical weight loss centers in NYC provides expert medical guidance, and offers telemedicine options for convenience.
Why choose W8MD?
- Comprehensive care with FDA-approved weight loss medications including:
- loss injections in NYC both generic and brand names:
- weight loss medications including Phentermine, Qsymia, Diethylpropion etc.
- Accept most insurances for visits or discounted self pay cost.
- Generic weight loss injections starting from just $125.00 for the starting dose
- In person weight loss NYC and telemedicine medical weight loss options in New York city available
- Budget GLP1 weight loss injections in NYC starting from $125.00 biweekly with insurance!
Book Your Appointment
Start your NYC weight loss journey today at our NYC medical weight loss, and Philadelphia medical weight loss Call (718)946-5500 for NY and 215 676 2334 for PA
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's NYC physician weight loss.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available. Call 718 946 5500.
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, categories Wikipedia, licensed under CC BY SA or similar.
Contributors: Prab R. Tumpati, MD