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Dictionary » Opitz-Frias syndrome
 

Opitz-Frias syndrome

Introduction: Opitz-Frias syndrome

Description of Opitz-Frias syndrome

Opitz-Frias syndrome (medical condition): A congenital disorder characterized by distinctive facial...more »

See also:

Hypertelorism with esophageal abnormality and hypospadias:
  »Introduction: Hypertelorism with esophageal abnormality and hypospadias
  »Symptoms of Hypertelorism with esophageal abnormality and hypospadias
  »Causes of Hypertelorism with esophageal abnormality and hypospadias
  »Treatments for Hypertelorism with esophageal abnormality and hypospadias

Opitz-Frias syndrome: First reported as two separate disorders, the G syndrome and the BBB syndrome, the condition is now considered a single entity with a wide clinical variability, ranging from neonatal lethality to an asymptomatic form. Widely-spaced inner ocular canthi and hypospadias as the major features of this syndrome. Associated disorders may include craniofacial anomalies, congenital heart defects, laryngotracheal disorders with dysphagia and aspiration, developmental delay, and other abnormalities. Most symptoms occur in both genetically determined forms, except for anteverted nares and posterior pharyngeal cleft which are found only in X-linked families. The acronym BBB stands for the initials of the last names of each of the three originally reported families. Opitz described the G syndrome, also named after the affected family, consisting of apparent hypertelorism, mild downslanting of the palpebral fissures, epicanthal folds, hypospadias, and laryngotracheoesophageal defects.
Source: Diseases Database

Opitz-Frias syndrome: Related Topics

These medical condition or symptom topics may be relevant to medical information for Opitz-Frias syndrome:

Opitz-Frias syndrome: Rare Disease

Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Opitz-Frias syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Opitz-Frias syndrome, or a subtype of Opitz-Frias syndrome, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet

Ophanet, a consortium of European partners, currently defines a condition rare when if affects 1 person per 2,000. They list Opitz-Frias syndrome as a "rare disease".

Source - Orphanet

Opitz-Frias syndrome as a Disease

Opitz-Frias syndrome: Another name for Hypertelorism with esophageal abnormality and hypospadias (or close medical condition association).
  »Introduction: Hypertelorism with esophageal abnormality and hypospadias
  »Symptoms of Hypertelorism with esophageal abnormality and hypospadias
  »Causes of Hypertelorism with esophageal abnormality and hypospadias
  »Treatments for Hypertelorism with esophageal abnormality and hypospadias

Opitz-Frias syndrome: Related Diseases

Opitz-Frias syndrome: Opitz-Frias syndrome is listed as a type of (or associated with) the following medical conditions in our database:

Causes of Opitz-Frias syndrome

Some of the causes of Opitz-Frias syndrome are included in the list below:

  • The condition is caused by a genetic defect which can be inherited in a X-linked or autosomal dominant manner

Symptoms of Opitz-Frias syndrome (Hypertelorism with esophageal abnormality and hypospadias)

Some of the symptoms of Opitz-Frias syndrome incude:

Treatments for Opitz-Frias syndrome (Hypertelorism with esophageal abnormality and hypospadias)

Treatments for Opitz-Frias syndrome (Hypertelorism with esophageal abnormality and hypospadias) include:

  • Treatment involves managing symptoms as they develop or repairing defects if possible:
  • Surgery may be needed to correct malformations or defects such as cleft lip or palate, heart defects, imperforate anus and trachea-esophageal defects
  • Genetic counseling and joining a support group is also recommended
  • Tracheostomy may be required if the airway is compromised due to laryngeal or esophageal defects
  • Speech therapy may be required for speech problems resulting from cleft lip or palate

Treatment of Opitz-Frias syndrome: For more treatment information about Opitz-Frias syndrome, see treatment of Hypertelorism with esophageal abnormality and hypospadias (Opitz-Frias syndrome)

Opitz-Frias syndrome: Related Disease Topics

These medical disease topics may be related to Opitz-Frias syndrome:

Terms associated with Opitz-Frias syndrome:

Terms Similar to Opitz-Frias syndrome:

Source: Diseases Database

Source - NIH

External links related to: Opitz-Frias syndrome

Source: Diseases Database

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Medical dictionaries:

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