What are the other Names for this Condition? (Also known as/Synonyms)

• Trigonocephaly-Bifid Nose-Acral Anomalies Syndrome

What is Trigonocephaly Bifid Nose Acral Anomalies Syndrome? (Definition/Background Information)

• Trigonocephaly-Bifid Nose-Acral Anomalies Syndrome is characterized by trigonocephaly, brachycephaly, bulbous nose (bifid at the tip), micrognathia, macrostomia, hypotonia and relatively broad metatarsals and phalanges

(Source: Trigonocephaly Bifid Nose Acral Anomalies; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Who gets Trigonocephaly Bifid Nose Acral Anomalies Syndrome? (Age and Sex Distribution)

• Trigonocephaly-Bifid Nose-Acral Anomalies Syndrome is an extremely rare congenital disorder, described only in 2 individuals thus far
• The onset of symptoms may occur at birth or in infancy
• Both genders may be affected by this disorder
• The condition has been reported in individuals of Palestinian Arab descent

What are the Risk Factors for Trigonocephaly Bifid Nose Acral Anomalies Syndrome? (Predisposing Factors)

• At the present time, no risk factors have been clearly defined for Trigonocephaly Bifid Nose Acral Anomalies Syndrome

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Trigonocephaly Bifid Nose Acral Anomalies Syndrome? (Etiology)

Currently, the cause of Trigonocephaly Bifid Nose Acral Anomalies Syndrome is not known.

What are the Signs and Symptoms of Trigonocephaly Bifid Nose Acral Anomalies Syndrome?

The signs and symptoms of Trigonocephaly Bifid Nose Acral Anomalies Syndrome may include:

• Trigonocephaly (triangle-shaped forehead)
• Brachycephaly (small head)
• Upward slanting eyes
• Bulbous nose (bifid at the tip)
• Micrognathia (small jaw)
• Macrostomia (wide mouth) 
• Cleft palate
• Dental malocclusion
• Hypotonia (low muscle tone)
• Pectus excavatum (breastbone curved into the chest)
• Relatively broad metatarsals and phalanges
• Curving of fingers
• Short stature
• Impaired psychomotor functions

How is Trigonocephaly Bifid Nose Acral Anomalies Syndrome Diagnosed?

Trigonocephaly Bifid Nose Acral Anomalies Syndrome is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Trigonocephaly Bifid Nose Acral Anomalies Syndrome?

The complications of Trigonocephaly Bifid Nose Acral Anomalies Syndrome may include:

• Problems with movement
• Severe psychomotor retardation
• Poor quality of life

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Trigonocephaly Bifid Nose Acral Anomalies Syndrome Treated?

Presently, there is no cure for Trigonocephaly Bifid Nose Acral Anomalies Syndrome. The treatment is usually given to manage the signs and symptoms and any complication that develops.

How can Trigonocephaly Bifid Nose Acral Anomalies Syndrome be Prevented?

• At the present time, the cause of Trigonocephaly Bifid Nose Acral Anomalies Syndrome is not known; therefore, no guidelines or methods are available for its prevention
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders
• Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of Trigonocephaly Bifid Nose Acral Anomalies Syndrome? (Outcomes/Resolutions)

• The prognosis of Trigonocephaly Bifid Nose Acral Anomalies Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications
• Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Trigonocephaly Bifid Nose Acral Anomalies Syndrome:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/