Skip to main content
U.S. flag

An official website of the United States government

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Search help
45 results
  1. Ellis-van Creveld Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK596643
    ... 4. Skeletal Ciliopathies of Interest in the Differential Diagnosis of Ellis-van Creveld Syndrome View in own window Genes Disorder Skeletal Manifestations ...
  2. Excluded Studies - Treatments for Ankyloglossia and Ankyloglossia With Concomitant Lip-Tie - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK299121
    ... importance of oral-clinical findings for the correct diagnosis of Ellis-van Creveld syndrome. Gen Dent. 2011 Sep-Oct; 59 (5):e206– ...
  3. Cranioectodermal Dysplasia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK154653
    ... Senior-Løken syndrome (OMIM 616307 ) WDR35 Chondroectodermal dysplasia ( Ellis-van Creveld syndrome ) 1 SRPS type 5 1 SRPS unclassified 1 SRPS = short-rib polydactyly syndrome 1. Mortier et al [2019] 2. Peña-Padilla et al [2017] Differential Diagnosis Cranioectodermal dysplasia (CED) is part of a spectrum ...
  4. Dwarfism 
    https://medlineplus.gov/dwarfism.html
    A dwarf is a person of short stature - under 4' 10" as an adult. Many conditions can cause dwarfism but Achondroplasia causes about 70 percent. ... People with dwarfism ...
  5. Trichorhinophalangeal Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK425926
    ... inheritance; PTH = parathyroid hormone; TRPS = trichorhinophalangeal syndrome 1. ... Following Initial Diagnosis To establish the extent of disease and support ...
  6. Tooth - abnormal shape 
    https://medlineplus.gov/ency/article/003064.htm
    ... Incontinentia pigmenti achromians Cleidocranial dysostosis Ehlers-Danlos syndrome Ellis-van Creveld syndrome
  7. Ellis-van Creveld syndrome 
    https://medlineplus.gov/ency/article/001667.htm
    ... is caused by defects in 1 of 2 Ellis-van Creveld syndrome genes ( EVC and EVC2 ). ... County, Pennsylvania. It is fairly rare in the general population.
  8. McKusick-Kaufman Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1502
    ... genes in a head-to-head configuration cause Ellis-van Creveld syndrome. Am J Hum Genet. ... H. Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and ...
  9. Genetic Disorders 
    https://medlineplus.gov/geneticdisorders.html
    A mutation in a person's genes can cause a medical condition called a genetic disorder. Learn about the types and how they are detected. ... Genes are the building ...
  10. Ritscher-Schinzel Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK553049
    ... Table 2. Disorders to Consider in the Differential Diagnosis of Ritscher-Schinzel Syndrome View in own ... EVC EVC2 AR CHD Dandy-Walker malformation ...
first · previous · 1 · 2 · 3 · 4 · next · last