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 177 for Congenital abnormalities
  1. 17q12 deletion syndrome 
    17q12 deletion syndrome is a condition that results from the deletion of a small piece of chromosome 17 in each cell. The deletion occurs on the long (q) arm ...
    https://medlineplus.gov/genetics/condition/17q12-deletion-syndrome - Genetics
  2. Burn-McKeown syndrome 
    ... is a disorder that is present from birth (congenital) and involves abnormalities of the nasal passages, characteristic facial features, hearing ...
    https://medlineplus.gov/genetics/condition/burn-mckeown-syndrome - Genetics
  3. Microvillus inclusion disease 
    ... Congenital familial protracted diarrhea with enterocyte brush-border abnormalities Congenital microvillous atrophy Davidson disease Familial protracted enteropathy Intractable ...
    https://medlineplus.gov/.../condition/microvillus-inclusion-disease - Genetics
  4. Kleefstra syndrome 
    ... with Kleefstra syndrome may also have structural brain abnormalities, congenital heart defects, genitourinary abnormalities, seizures, and a tendency ...
    https://medlineplus.gov/genetics/condition/kleefstra-syndrome - Genetics
  5. Congenital anomalies of kidney and urinary tract 
    ... the urinary system and is present from birth (congenital), although the abnormality may not become apparent until later in life. ... early embryonic development may underlie the urinary system abnormality. These cases occur in people with no history of the disorder in their family. ... Testing Registry: Congenital anomaly of kidney and urinary tract National Organization ...
    https://medlineplus.gov/...tal-anomalies-of-kidney-and-urinary-tract - Genetics
  6. CUL3-related neurodevelopmental disorder 
    ... go away after childhood. Rarely, recurrent seizures (epilepsy), congenital heart abnormalities, or genitourinary abnormalities occur in people with CUL3- ...
    https://medlineplus.gov/.../cul3-related-neurodevelopmental-disorder - Genetics
  7. Recombinant 8 syndrome 
    ... 8 syndrome is a condition that involves complex congenital heart abnormalities, urinary tract abnormalities, moderate to severe intellectual disability, ...
    https://medlineplus.gov/genetics/condition/recombinant-8-syndrome - Genetics
  8. FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome 
    ... affected individuals also have heart abnormalities, such as congenital heart defects or heart rhythm abnormalities (arrhythmias). In addition, individuals with this condition can ...
    https://medlineplus.gov/...thic-mitochondrial-dna-depletion-syndrome - Genetics
  9. Leber congenital amaurosis 
    ... cause, patterns of vision loss, and related eye abnormalities. Leber congenital amaurosis occurs in 2 to 3 per 100, ...
    https://medlineplus.gov/.../condition/leber-congenital-amaurosis - Genetics
  10. CHOPS syndrome 
    CHOPS syndrome is a disorder involving multiple abnormalities that are present from birth (congenital). The name "CHOPS" is an abbreviation for a list of features of the disorder including cognitive impairment, coarse facial features, heart defects, obesity, ...
    https://medlineplus.gov/genetics/condition/chops-syndrome - Genetics
previous · 1 · 2 · 3 · 4 · 5 · 6 · 7 · 8 · 9 · 10 · next