Char syndrome

Other Names: CHAR, Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits See more

Categories: Congenital and Genetic Diseases, Eye diseases

Don’t fight Char syndrome alone.

Find your community on the free RareGuru App.
Connect with other caregivers and patients with Char syndrome and get the support you need.

Description

Char syndrome is a condition that affects the development of the face, heart, and limbs. It is characterized by a combination of three major features: a distinctive facial appearance, a heart defect called patent ductus arteriosus, and hand abnormalities. Char syndrome is caused by mutations in the TFAP2B gene and is inherited in an autosomal dominant fashion.

Source: GARD Last updated on 05-01-20

Symptoms

Symptoms and their Known Frequencies

We're currently performing maintenance on our symptoms information from GARD. Please check back at a later time for updates.

Name: Congenital Heart Information Network (C.H.I.N.) P.O. Box 3397
Margate City, NJ, 08402-0397, United States Phone: (609) 823-4507 Fax : 609-822-1574 Email: mb@tchin.org Url: https://www.facebook.com/TCHIN.org?

Connect with other users with Char syndrome on the RareGuru app

Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!

Char syndrome

Table of Contents

Description

Symptoms

Symptoms and their Known Frequencies

Connect with other users with Char syndrome on the RareGuru app

Join the RareGuru Community

Char syndrome

Table of Contents

Description

Symptoms

Symptoms and their Known Frequencies

Organizations

Connect with other users with Char syndrome on the RareGuru app

Join the RareGuru Community