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Acrofacial Dysostosis, Palagonia type

Last updated April 20, 2018

Approved by: Krish Tangella MD, MBA, FCAP

Acrofacial Dysostosis, Palagonia type is a very rare form of acrofacial dysostosis (AFD), reported in four members of a family from the Sicilian village of Palagonia.


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

  • AFD, Palagonia type
  • Palagonia form of AFD
  • Palagonia type of Acrofacial Dysostosis (PAFD)

What is it? (Definition/Background Information)

  • Acrofacial Dysostosis, Palagonia type is a very rare form of acrofacial dysostosis (AFD), reported in four members of a family from the Sicilian village of Palagonia
  • It is characterized by normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, webbing of digits and shortening of the fourth metacarpals, and unilateral cleft lip
  • Features are similar to those seen in Zlotogora-Ogur syndrome, although the latter shows no sign of acrofacial dysostosis. There have been no further reports in the literature since 1997

(Source: Acrofacial Dysostosis, Palagonia type; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Who gets Acrofacial Dysostosis, Palagonia type? (Age and Sex Distribution)

  • Acrofacial Dysostosis, Palagonia type is a very rare congenital disorder. The presentation of symptoms may occur at birth
  • Both males and females may be affected
  • Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Acrofacial Dysostosis, Palagonia type? (Predisposing Factors)

  • Currently, no risk factors have been clearly identified for Acrofacial Dysostosis, Palagonia type

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 Acrofacial Dysostosis, Palagonia type? (Etiology)

Presently, the exact cause of development of Acrofacial Dysostosis, Palagonia type is unknown.

What are the Signs and Symptoms of Acrofacial Dysostosis, Palagonia type?

The signs and symptoms of Acrofacial Dysostosis, Palagonia type may include:

  • Abnormal vertebral morphology
  • Aplasia cutis congenita (ACC)
  • Cleft upper lip
  • Cutaneous finger syndactyly
  • Hypoplasia of the odontoid process
  • Malar flattening
  • Oligodontia
  • Pili torti
  • Prominent forehead
  • Scoliosis
  • Short 4th metacarpal
  • Sparse eyebrow
  • Spina bifida occulta at S1
  • Unilateral cleft lip

(Source: Acrofacial Dysostosis, Palagonia type; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Acrofacial Dysostosis, Palagonia type Diagnosed?

Acrofacial Dysostosis, Palagonia type 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 Acrofacial Dysostosis, Palagonia type?

The complications of Acrofacial Dysostosis, Palagonia type may include:

  • Facial deformities
  • Decreased quality of life

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

How is Acrofacial Dysostosis, Palagonia type Treated?

Currently, there is no cure for Acrofacial Dysostosis, Palagonia type. The treatment is usually given to manage the signs and symptoms and any complications that develops.

How can Acrofacial Dysostosis, Palagonia type be Prevented?

  • Currently, Acrofacial Dysostosis, Palagonia type may not be preventable, since the cause of this disorder is unknown
  • Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of Acrofacial Dysostosis, Palagonia type? (Outcomes/Resolutions)

  • The prognosis of Acrofacial Dysostosis, Palagonia type 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 Acrofacial Dysostosis, Palagonia type:

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

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

What are some Useful Resources for Additional Information?


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Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: April 20, 2018
Last updated: April 20, 2018