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Craniofrontonasal Dysplasia

Last updated April 4, 2018

Approved by: Maulik P. Purohit MD MPH

Stefanvana

Image showing longitudinal ridging and splitting of the toenails as part of craniofrontonasal dysplasia.


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

  • CFND (Craniofrontonasal Dysplasia)
  • Craniofrontonasal Dysostosis
  • Craniofrontonasal Syndrome

What is Craniofrontonasal Dysplasia? (Definition/Background Information)

  • Craniofrontonasal Dysplasia (CFND) is a very rare genetically inherited disorder. The condition is seen at birth and affects females more commonly and more severely than males
  • The biggest risk factor is a family history of Craniofrontonasal Dysplasia. Other genetic predispositions, such as sporadic mutations, may also contribute to the risk. There are currently no confirmed causes for the development of Craniofrontonasal Dysplasia
  • The disorder is characterized by abnormalities of the head and neck region (including the face), hands, feet, and skeletal bones. This abnormally affects many physical features of the body
  • Most treatments of Craniofrontonasal Dysplasia deal with managing the physical complications via surgery. Although CFND cannot be prevented or cured, individuals are still able to manage their daily lives with a measure of quality with adequate treatment

Who gets Craniofrontonasal Dysplasia? (Age and Sex Distribution)

  • Craniofrontonasal Dysplasia is a congenital condition; it is manifested at birth
  • Females are more commonly affected than males; they are also more severely affected than males (for some unknown reason)
  • No specific racial group or ethnic predilection is observed

What are the Risk Factors for Craniofrontonasal Dysplasia? (Predisposing Factors)

  • The biggest risk factor of Craniofrontonasal Dysplasia is having a family history of the condition
  • There may be other genetic predispositions that may increase the risk of genetic defects. The presence of sporadic mutation in one of the parents, who do not show any signs and symptoms, can be a risk factor for a child. Such mutations can also be transmitted from the parent to the offspring

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases ones 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 Craniofrontonasal Dysplasia? (Etiology)

The exact cause of Craniofrontonasal Dysplasia, a rare inherited condition, is currently not known.

  • Genetic defects on the X chromosome is noted in the affected families (X-linked inheritance)
  • Rarely, CFND is known to be inherited in an autosomal dominant fashion
  • Certain molecular interactions of genetic material and certain metabolic factors play a role in how severe the condition may be

What are the Signs and Symptoms of Craniofrontonasal Dysplasia?

There are many signs and symptoms that are associated with Craniofrontonasal Dysplasia. Each affected individual may show varying signs and symptoms of the disorder depending on the severity. Generally, females have more severe signs and symptoms than males, for unknown reason.

Many of the common signs and symptoms listed below include:

  • Unusually-shaped head; broad nose, face, or forehead
  • Widely-spaced eyes
  • A groove (cleft) on the nose or lip; wide mouth
  • Underdeveloped face (forehead, nose, and chin)
  • Low ears; hearing problems
  • Webbed neck
  • Females usually displace thick, wiry, and curly hair at 2-3 months
  • Defects in formation of toes and fingers, broad fingers and toes, curved last finger
  • Increased webbing in between the fingers and toes
  • Delayed development
  • Long flat bone in the center of the chest; sunken chest
  • Chest shows protrusion of parts of the stomach or intestines
  • Deformed collarbone or shoulder; narrow shoulders
  • Reverse or sideways curvature of the spin
  • One limb (arm or leg) may be shorter than the other
  • Underdevelopment of one breast in females
  • Decrease in muscle tone
  • Abnormal skin folds at the base of the penis for males
  • Poor development of tube from bladder that urine passes through (urethra)
  • Urinary opening may develop in an abnormal position

How is Craniofrontonasal Dysplasia Diagnosed?

The diagnosis of Craniofrontonasal Dysplasia may involve:

  • A complete physical examination upon birth via X-ray
  • A family medical history of CFND is also needed to diagnose the condition
  • It can also be diagnosed before birth via prenatal ultrasound scan
  • Genetic testing to look for mutations in the X chromosome via blood testing

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 Craniofrontonasal Dysplasia?

The complications of Craniofrontonasal Dysplasia may include various malformations that present multiple challenges for the affected child. In such cases, the quality of life may be severely affected.

How is Craniofrontonasal Dysplasia Treated?

There is no cure for Craniofrontonasal Dysplasia. The treatment provided mainly depends on the malformations observed in the child.

  • The main treatment includes surgery which is performed to correct deformities of the face, hands, feet, nose, and neck
  • Supportive care of parents and healthcare providers

How can Craniofrontonasal Dysplasia be Prevented?

  • Currently, there are no specific methods or guidelines to prevent Craniofrontonasal Dysplasia, since it is a genetic condition
  • Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
  • If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
  • Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders such as Craniofrontonasal Dysplasia

What is the Prognosis of Craniofrontonasal Dysplasia? (Outcomes/Resolutions)

  • Craniofrontonasal Dysplasia is an incurable condition and individuals have to cope with the condition on a daily basis. However, surgical treatment measures are helpful in correcting certain physical defects
  • In such cases, the prognosis is better and the affected individuals are able to live near normal lives, despite challenges as a result of their condition

Additional and Relevant Useful Information for Craniofrontonasal Dysplasia:

Please visit our Congenital & Genetic Disorders Health Center for more physician-approved health information:

http://www.dovemed.com/diseases-conditions/congenital-genetic-disorders/

What are some Useful Resources for Additional Information?


References and Information Sources used for the Article:


Helpful Peer-Reviewed Medical Articles:


Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: Aug. 2, 2016
Last updated: April 4, 2018