Skip navigation

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.

Results 1 - 10 of 41 for Syndromic disease
  1. Hirschsprung disease 
    ... central hypoventilation syndrome. These cases are described as syndromic. Hirschsprung disease can also occur without other conditions, and these ...
    https://medlineplus.gov/genetics/condition/hirschsprung-disease - Genetics
  2. Meige disease 
    ... Jeffery S, Child A, Sarfarazi M. Primary non-syndromic lymphoedema (Meige disease) is not caused by mutations in FOXC2. Eur ...
    https://medlineplus.gov/genetics/condition/meige-disease - Genetics
  3. Retinitis pigmentosa 
    ... tissues in the body. These forms of the disease are described as syndromic. The most common form of syndromic retinitis pigmentosa is Usher syndrome, which is characterized by the combination of vision loss and hearing loss ... Retinitis ...
    https://medlineplus.gov/genetics/condition/retinitis-pigmentosa - Genetics
  4. PPM-X syndrome 
    ... Rare Disorders (NORD) INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 13; MRXS13 PubMed Francke U. Mechanisms of disease: neurogenetics of MeCP2 deficiency. Nat Clin Pract Neurol. ...
    https://medlineplus.gov/genetics/condition/ppm-x-syndrome - Genetics
  5. Congenital anomalies of kidney and urinary tract 
    ... life-threatening kidney failure and end-stage renal disease.CAKUT is often one of several features of a condition that affects multiple body systems (syndromic CAKUT). For example, renal coloboma syndrome, 17q12 deletion ...
    https://medlineplus.gov/...tal-anomalies-of-kidney-and-urinary-tract - Genetics
  6. Palmoplantar keratoderma with deafness 
    ... p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma. Am J Med Genet A. 2009 Feb 15;149A(4):685-8. doi: 10.1002/ajmg.a.32462. Citation on PubMed Lee JR, White TW. Connexin-26 mutations in deafness and skin disease. Expert Rev Mol Med. 2009 Nov 19;11: ...
    https://medlineplus.gov/.../palmoplantar-keratoderma-with-deafness - Genetics
  7. USH2A gene 
    ... patients with Usher syndrome type II or non-syndromic retinitis pigmentosa. J ... EL. Disease course in patients with autosomal recessive retinitis pigmentosa ...
    https://medlineplus.gov/genetics/gene/ush2a - Genetics
  8. Jackson-Weiss syndrome 
    ... NB, Solomon BD, Muenke M. Hearing loss in syndromic craniosynostoses: otologic ... development and human genetic diseases. Front Biosci. 2005 May 1;10:1961-76. ...
    https://medlineplus.gov/genetics/condition/jackson-weiss-syndrome - Genetics
  9. Trichohepatoenteric syndrome 
    ... the body. This condition is also known as syndromic diarrhea because chronic, difficult-to-treat diarrhea is ... condition. Diarrhea, fatal infantile, with trichorrhexis nodosa Diarrhea, syndromic Intractable diarrhea with phenotypic anomalies Phenotypic diarrhea of ...
    https://medlineplus.gov/.../condition/trichohepatoenteric-syndrome - Genetics
  10. Loeys-Dietz syndrome 
    ... Mutations in a TGF-beta ligand, TGFB3, cause syndromic aortic aneurysms and ... the management of thoracic aortic disease. Can J Cardiol. 2014 Jun;30(6):577- ...
    https://medlineplus.gov/genetics/condition/loeys-dietz-syndrome - Genetics
previous · 1 · 2 · 3 · 4 · 5 · next