Orofaciodigital Syndrome 1 Overview

Save information for later
Sign Up

Learn About Orofaciodigital Syndrome 1

What is the definition of Orofaciodigital Syndrome 1?
Orofaciodigital syndrome 1 (OFD1), also called orofaciodigital syndrome type 1, is a condition that affects the development of the oral cavity (the mouth and teeth), facial features, and digits (fingers and toes). This condition also causes polycystic kidney disease. Orofaciodigital syndrome 1 is caused by a change in a gene called OFD1 which appears to play an important role in the early development of many parts of the body including the brain, face, limbs, and kidneys. The syndrome is inherited in an X-linked dominant pattern. The diagnosis of OFD1 is sometimes made at birth, but it may be suspected only after polycystic kidney disease is found in later childhood or adulthood. OFD1 is the most common form of orofaciodigital syndrome and differs from the other types mainly by its association with polycystic kidney disease.
What are the alternative names for Orofaciodigital Syndrome 1?
  • Orofaciodigital syndrome 1
  • OFD syndrome 1
  • OFD1
  • OFDS 1
  • Oral facial digital syndrome 1
  • Oral facial digital syndrome type 1
  • Oral-facial-digital syndrome 1
  • Oral-facial-digital syndrome type 1
  • Orofaciodigital syndrome I
  • Papillon-League-Psaume syndrome (formerly)
Who are the top Orofaciodigital Syndrome 1 Local Doctors?
Experienced in Orofaciodigital Syndrome 1
Dr. Ariadne G. Lie
Pediatrics | Internal Medicine
Experienced in Orofaciodigital Syndrome 1
Dr. Ariadne G. Lie
Pediatrics | Internal Medicine

University Healthcare Alliance

6121 Hollis St, Suite 400, 
Emeryville, CA 
 (2.8 mi)
650-723-6855
Languages Spoken:
English
Offers Telehealth

Ariadne Lie is a Pediatrics specialist and an Internal Medicine provider in Emeryville, California. Dr. Lie and is rated as an Experienced provider by MediFind in the treatment of Orofaciodigital Syndrome 1. Her top areas of expertise are Autism Spectrum Disorder, Moebius Syndrome, Fetal Alcohol Syndrome (FAS), and Sickle Cell Disease.

Advanced in Orofaciodigital Syndrome 1
Dr. Danilo R. Cruz
Family Medicine
Advanced in Orofaciodigital Syndrome 1
Dr. Danilo R. Cruz
Family Medicine
1212 Hanna Ave, 
Corcoran, CA 
 (190.3 mi)
559-992-2800
Languages Spoken:
English
See accepted insurances

Danilo Cruz is a Family Medicine provider in Corcoran, California. Dr. Cruz and is rated as an Advanced provider by MediFind in the treatment of Orofaciodigital Syndrome 1. His top areas of expertise are Immune Thrombocytopenic Purpura (ITP), Adult Immune Thrombocytopenia, Hemangioma Thrombocytopenia Syndrome, and Thrombocytopenia.

 
 
 
 
Learn about our expert tiers
Learn More
Advanced in Orofaciodigital Syndrome 1
Dr. Mark D. Suski
Plastic Surgery
Advanced in Orofaciodigital Syndrome 1
Dr. Mark D. Suski
Plastic Surgery
227 W Janss Rd, Suite 205, 
Thousand Oaks, CA 
 (312.4 mi)
805-494-3330
Languages Spoken:
English

Mark Suski is a Plastic Surgeon in Thousand Oaks, California. Dr. Suski and is rated as an Advanced provider by MediFind in the treatment of Orofaciodigital Syndrome 1. His top areas of expertise are Melanoma, Goldenhar Disease, Apert Syndrome, Bladder Reconstruction, and Gastrostomy.

View All Doctors
What are the latest Orofaciodigital Syndrome 1 Clinical Trials?
Match to trials
Find the right clinical trials for you in under a minute
Get started
View All Clinical Trials
Who are the sources who wrote this article ?

Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center