Frontometaphyseal dysplasia

Frontometaphyseal dysplasia is a disorder involving abnormalities in skeletal development and other health problems. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 1, otopalatodigital syndrome type 2, and ...1

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Symptoms of Frontometaphyseal dysplasia

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 Frontometaphyseal dysplasia

Some types of this condition may include:2 Types of Frontometaphyseal Dysplasia:

  • Frontometaphyseal dysplasia
  • Frontometaphyseal Dysplasia 2; FMD2
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Genetics of Frontometaphyseal dysplasia

Genetic Changes: Mutations in the FLNA gene cause frontometaphyseal dysplasia . The FLNA gene provides instructions for producing the protein filamin A, which helps build the network of protein filaments ( cytoskeleton ) that gives structure to cells and allows them to change ...3

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Names and Terminology

Other Names for This Condition

Source: GHR (NLM/NIH)4 ...

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References

  1. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ frontometaphyseal-dysplasia
  2. Source: NCI Thesaurus
  3. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ frontometaphyseal-dysplasia
  4. 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.