Acromelic frontonasal dysostosis

Acromelic frontonasal dysostosis: A dysostosis characterized by cranium bifidum, severe hypertelorism, median cleft lip and palate, nasal bifurcation, brachycephaly, large fontanelle, tibial hemimelia, preaxial polydactyly of the feet and brain malformations. ...1

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Acromelic frontonasal dysostosis: Acromelic frontonasal dysplasia (AFND) is a rare variant of frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum) ...2

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Symptoms of Acromelic frontonasal dysostosis

Symptoms: The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. Signs and Symptoms

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Types of Acromelic frontonasal dysostosis

Some types of this condition may include:3 Types of acromelic frontonasal dysostosis:

  • Acromelic frontonasal dysplasia
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Names and Terminology

Related Diseases: The following diseases are related to Acromelic frontonasal dysostosis. If you have a question about any of these diseases, you can contact GARD ...4

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References

  1. Source: Disease Ontology
  2. Source: Monarch Initiative
  3. Source: NCI Thesaurus
  4. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 5539/ acromelic-frontonasal-dysostosis

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Note: This site is for informational purposes only and is not medical advice. See your doctor or other qualified medical professional for all your medical needs.