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?
John Novak
Experienced in Orofaciodigital Syndrome 1
Internal Medicine
Experienced in Orofaciodigital Syndrome 1
Internal Medicine

Bassett Health Center Cobleskill

136 Parkway Drive, 
Cobleskill, NY 
Languages Spoken:
English
Offers Telehealth

. Dr. Novak is rated as an Experienced provider by MediFind in the treatment of Orofaciodigital Syndrome 1. His top areas of expertise are Relapsing Multiple Sclerosis (RMS), Enlarged Prostate (BPH), Type 2 Diabetes (T2D), and Lymphangitis.

Hans S. Kim
Distinguished in Orofaciodigital Syndrome 1
Internal Medicine
Distinguished in Orofaciodigital Syndrome 1
Internal Medicine

Healthcare Associates

330 Brookline Avenue, East Shapiro 6, 
Boston, MA 
Languages Spoken:
English
Offers Telehealth

Hans Kim is a primary care provider, practicing in Internal Medicine in Boston, Massachusetts. Dr. Kim is rated as a Distinguished provider by MediFind in the treatment of Orofaciodigital Syndrome 1. His top areas of expertise are Pfeiffer Syndrome, Orofaciodigital Syndrome 1, Goldenhar Disease, and Carpenter Syndrome.

 
 
 
 
Learn about our expert tiers
Learn More
Advanced in Orofaciodigital Syndrome 1
Oral and Maxillofacial Surgery | Plastic Surgery | General Surgery
Advanced in Orofaciodigital Syndrome 1
Oral and Maxillofacial Surgery | Plastic Surgery | General Surgery

Wk Oral And Maxillofacial Surgery Institute

2508 Bert Kouns Industrial Loop, Suite 410, 
Shreveport, LA 
Languages Spoken:
English, Arabic, Filipino, German, Spanish
Accepting New Patients

Ghali Ghali is an Oral and Maxillofacial Surgeon and a Plastic Surgeon in Shreveport, Louisiana. Dr. Ghali is rated as an Advanced provider by MediFind in the treatment of Orofaciodigital Syndrome 1. His top areas of expertise are Osteochondroma, Mouth Sores, Mouth Ulcers, Tongue Cancer, and Gastrostomy. Dr. Ghali is currently accepting new patients.

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
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 1?