Orofaciodigital Syndrome 4 Overview
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Learn About Orofaciodigital Syndrome 4
What is the definition of Orofaciodigital Syndrome 4?
Orofaciodigital syndrome 4 is one of a group of related conditions that affect the development of the oral cavity (the mouth and teeth), facial features, and digits (fingers and toes). Specific features, while variable, commonly include non-cancerous tumors (hamartomas) of the tongue, polydactyly of the hands and feet, severe clubfoot, and shortening and bowing of the middle portion of the lower leg (mesomelic limb shortening with tibial dysplasia). Orofaciodigital syndrome 4 is inherited in an autosomal recessive fashion. The condition appears to be caused by genetic changes in the tectonic family member 3 gene (TCTN3).
What are the alternative names for Orofaciodigital Syndrome 4?
- Orofaciodigital syndrome 4
- Baraitser-Burn syndrome
- OFD syndrome 4
- OFD syndrome with tibial defects
- OFD4
- OFDS 4
- Oral facial digital syndrome 4
- Oral facial digital syndrome type 4
- Oral-facial-digital syndrome type 4
- Orofaciodigital syndrome IV
- Orofaciodigital syndrome with tibial dysplasia
Who are the top Orofaciodigital Syndrome 4 Local Doctors?
Family Medicine
Family Medicine
Boone County Health Center
723 W Fairview St,
Albion, NE
Languages Spoken:
English
Accepting New Patients
Sean Kohl is a Family Medicine provider in Albion, Nebraska. Dr. Kohl and is rated as an Experienced provider by MediFind in the treatment of Orofaciodigital Syndrome 4. His top areas of expertise are Lymphangitis, Cellulitis, Idiopathic Edema, and Peptic Ulcer. Dr. Kohl is currently accepting new patients.
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What are the latest Orofaciodigital Syndrome 4 Clinical Trials?
Who are the sources who wrote this article ?
Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center
What are the Latest Advances for Orofaciodigital Syndrome 4?
A splice site variant in TCTN3 underlies an atypical form of orofaciodigital syndrome IV.
Journal: Annals of human genetics
Published: April 27, 2021
TCTN3 mutations cause Mohr-Majewski syndrome.
Journal: American journal of human genetics
Published: March 05, 2012
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