Learn About Oral-Facial-Digital Syndrome

What is the definition of Oral-Facial-Digital Syndrome?

Oral-facial-digital syndrome is actually a group of related conditions that affect the development of the oral cavity (the mouth and teeth), facial features, and digits (fingers and toes).

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What are the causes of Oral-Facial-Digital Syndrome?

Only one gene, OFD1, has been associated with oral-facial-digital syndrome. Mutations in this gene cause oral-facial-digital syndrome type I. OFD1 gene mutations were also found in an affected family whose disorder was classified as type VII; however, researchers now believe that type VII is the same as type I.

How prevalent is Oral-Facial-Digital Syndrome?

Oral-facial-digital syndrome has an estimated incidence of 1 in 50,000 to 250,000 newborns. Type I accounts for the majority of cases of this disorder. The other forms of oral-facial-digital syndrome are very rare; most have been identified in only one or a few families.

Is Oral-Facial-Digital Syndrome an inherited disorder?

Oral-facial-digital syndrome type I is inherited in an X-linked dominant pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder. Some cells produce a normal amount of OFD1 protein and other cells produce none. The resulting overall reduction in the amount of this protein leads to the signs and symptoms of oral-facial-digital syndrome type I.

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What are the latest Oral-Facial-Digital Syndrome Clinical Trials?
Phenotypes, Biomarkers and Pathophysiology in Spastic Ataxias
Summary: The aim of this study is to determine the clinical spectrum and natural progression of Spastic Ataxias (SPAX) and related disorders in a prospective multicenter natural history study, identify digital, imaging and molecular biomarkers that can assist in diagnosis and therapy development and study the genetic etiology and molecular mechanisms of these diseases.
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Development of a Technology-Enhanced Executive Functioning Skills Intervention for Adolescents With ADHD
Summary: This study develops and refines an online platform that will support clinician-directed behavioral and organizational skills intervention for adolescents with Attention-Deficit/Hyperactivity Disorder (ADHD) with input guided from key stakeholders during focus groups and interviews (phase 1), extended usability testing (phase 2), and a pilot randomized trial (phase 3) of the online tool used in con...
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Published Date: February 01, 2010Published By: National Institutes of Health

What are the Latest Advances for Oral-Facial-Digital Syndrome?
Expanding the Phenotype of the FAM149B1-Related Ciliopathy and Identification of Three Neurogenetic Disorders in a Single Family.
Summary: Expanding the Phenotype of the FAM149B1-Related Ciliopathy and Identification of Three Neurogenetic Disorders in a Single Family.
Bilateral Mechanical Thrombectomies for Simultaneous MCA Occlusions.
Summary: Bilateral Mechanical Thrombectomies for Simultaneous MCA Occlusions.
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