Ellis-van Creveld syndrome

Ellis-van Creveld syndrome is an inherited disorder of bone growth that results in very short stature (dwarfism). People with this condition have particularly short forearms and lower legs and a narrow chest with short ribs. Ellis-van Creveld syndrome ...1

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Symptoms of Ellis-van Creveld syndrome

Ellis-van Creveld syndrome is characterized by short-limb dwarfism, polydactyly (additional fingers or toes), malformation of the bones of the wrist, dystrophy of the fingernails, partial hare-lip, cardiac malformation, and often prenatal eruption of the teeth. ...Source: NCBI ...2

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Types of Ellis-van Creveld syndrome

Some types of this condition may include:3 Types of Ellis-Van Creveld syndrome:

  • asphyxiating thoracic dystrophy 1
  • Jeune syndrome situs inversus
  • Mesoectodermal dysplasia
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Genetics of Ellis-van Creveld syndrome

The gene causing Ellis-van Creveld syndrome, EVC, has been mapped to the short arm of chromosome 4. As yet, the function of a healthy EVC gene is not known; this is one of the most important questions that must ...4

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Names and Terminology

Ellis-van Creveld syndrome, also known as "chondroectodermal dysplasia" ...Source: NCBI, Genes and Disease (NCBI/NIH)5 ...

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References

  1. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ ellis-van-creveld-syndrome
  2. Source: NCBI, Genes and Disease (NCBI/NIH): ncbi.nlm.nih.gov/ books/ NBK22264/ 
  3. Source: NCI Thesaurus
  4. Source: NCBI, Genes and Disease (NCBI/NIH): ncbi.nlm.nih.gov/ books/ NBK22264/ 
  5. ibid.

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