Bohring-Opitz syndrome

Description: Bohring-Opitz syndrome is a rare condition that affects the development of many parts of the body. People with Bohring-Opitz syndrome have abnormal development of the head. They often have a small head size ( microcephaly ) and a skull abnormality ...1

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Symptoms of Bohring-Opitz syndrome

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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Genetics of Bohring-Opitz syndrome

Genetic Changes: Bohring-Opitz syndrome is caused by mutations in the ASXL1 gene. This gene provides instructions for making a protein that is involved in a process known as chromatin remodeling. Chromatin is the complex of DNA and proteins that ...2

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Names and Terminology

Other Names for This Condition

  • Bohring syndrome
  • BOPS
  • C-like syndrome
  • Oberklaid-Danks syndrome
  • Opitz trigonocephaly-like syndrome

Source: GHR (NLM/NIH)3 ...

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References

  1. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ bohring-opitz-syndrome
  2. ibid.
  3. ibid.

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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.