Temple–Baraitser syndrome

From WikiMD.com - Food, Medicine & Wellness Encyclopedia

(Redirected from Temple-Baraitser syndrome)

Dr.Prab.jpg

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC

Temple–Baraitser syndrome
Characteristic hand features in Temple–Baraitser syndrome
Synonyms TBS
Pronounce
Specialty Medical genetics
Symptoms Intellectual disability, epilepsy, hypotonia, aplasia or hypoplasia of the nails
Complications N/A
Onset Infancy
Duration Lifelong
Types N/A
Causes Genetic mutation in the KCNH1 gene
Risks
Diagnosis Clinical evaluation, genetic testing
Differential diagnosis Coffin–Siris syndrome, Zimmermann–Laband syndrome
Prevention
Treatment Symptomatic treatment, antiepileptic drugs
Medication
Prognosis Variable, depends on severity of symptoms
Frequency Rare, exact prevalence unknown
Deaths


Temple–Baraitser syndrome is a rare genetic disorder characterized by severe intellectual disability, distinctive facial features, and abnormalities of the hands and feet. It was first described by Temple and Baraitser in 1991.

Clinical Features[edit | edit source]

The clinical features of Temple–Baraitser syndrome include severe intellectual disability, epilepsy, distinctive facial features such as a broad forehead, deep-set eyes, a bulbous nose, and a wide mouth with a thin upper lip. The hands and feet show abnormalities including brachydactyly (short fingers and toes), clinodactyly (curved fingers and toes), and aplasia or hypoplasia of the nails and phalanges.

Genetics[edit | edit source]

Temple–Baraitser syndrome is caused by mutations in the KCNH1 gene, which encodes a protein that is part of a family of potassium channels. These channels play a crucial role in the electrical activity of neurons. The mutations in the KCNH1 gene lead to a gain of function, which results in increased neuronal excitability and may explain the neurological symptoms seen in this syndrome.

Diagnosis[edit | edit source]

The diagnosis of Temple–Baraitser syndrome is based on the clinical features and can be confirmed by genetic testing for mutations in the KCNH1 gene.

Treatment[edit | edit source]

There is no cure for Temple–Baraitser syndrome. Treatment is symptomatic and supportive, and may include physical therapy, occupational therapy, and speech therapy to help improve motor skills and communication abilities. Medication may be used to manage seizures.

Prognosis[edit | edit source]

The prognosis for individuals with Temple–Baraitser syndrome varies. Some individuals may have a normal lifespan, while others may have a shortened lifespan due to complications such as severe intellectual disability and recurrent seizures.

See Also[edit | edit source]

NIH genetic and rare disease info[edit source]

Temple–Baraitser syndrome is a rare disease.





WHO Rod.svg
This article is a medical stub. You can help WikiMD by expanding it!
PubMed
Wikipedia
WikiMD
Navigation: Wellness - Encyclopedia - Health topics - Disease Index‏‎ - Drugs - World Directory - Gray's Anatomy - Keto diet - Recipes

Transform your life with W8MD's budget GLP1 injections in NYC from $125 and up biweekly

W8mdlogo.png
W8MD weight loss doctors team

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?

Book Your Appointment

Start your NYC weight loss journey today at our NYC medical weight loss, and Philadelphia and visit 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

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