Orofaciodigital Syndrome 1
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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
Internal Medicine
Experienced in Orofaciodigital Syndrome 1
Internal Medicine

Bassett Health Center Cobleskill

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

John Novak is a primary care provider, practicing in Internal Medicine in Cobleskill, New York. Dr. Novak is rated as an Experienced provider by MediFind in the treatment of Orofaciodigital Syndrome 1. He is also highly rated in 14 other conditions, according to our data. His clinical expertise encompasses Relapsing Multiple Sclerosis (RMS), Enlarged Prostate (BPH), Type 2 Diabetes (T2D), and Lymphangitis.

Experienced in Orofaciodigital Syndrome 1
Plastic Surgery
Experienced in Orofaciodigital Syndrome 1
Plastic Surgery
Referral may be required

St. Christopher's Pediatric Associates Plastic Surgery - E. Erie Avenue

160 E Erie Ave, 
Philadelphia, PA 
Languages Spoken:
English

Christine Jones is a Plastic Surgeon practicing medicine in Philadelphia, Pennsylvania. Dr. Jones is rated as an Experienced provider by MediFind in the treatment of Orofaciodigital Syndrome 1. She is also highly rated in 6 other conditions, according to our data. Her clinical expertise encompasses Microtia, Branchial Cleft Cyst, Autosomal Cleft Palate, Breast Enlargement In Males, and Fasciotomy. Dr. Jones is board certified in American Board Of Plastic Surgery.

 
 
 
 
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Experienced in Orofaciodigital Syndrome 1
Family Medicine
Experienced in Orofaciodigital Syndrome 1
Family Medicine

Bassett Health Center Little Falls Primary Care

170 Burwell Street, 
Little Falls, NY 
Languages Spoken:
English

Amy Grace is a primary care provider, practicing in Family Medicine in Little Falls, New York. Dr. Grace is rated as an Experienced provider by MediFind in the treatment of Orofaciodigital Syndrome 1. She is also highly rated in 12 other conditions, according to our data. Her clinical expertise encompasses Hypothyroidism, Obesity in Children, Enlarged Prostate (BPH), and Glucocorticoid-Remediable Aldosteronism.

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

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