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Results 1 - 10 of 19 for IMAGe syndrome
  1. Intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 
    ... hypoplasia congenita is the most severe feature of IMAGe syndrome. The adrenal glands are a pair of small ... be life-threatening.The genital abnormalities associated with IMAGe syndrome occur only in affected males. They include an ...
    https://medlineplus.gov/...ypoplasia-congenita-and-genital-anomalies - Genetics
  2. CDKN1C gene 
    ... this condition. Because this gene is paternally imprinted, IMAGe syndrome results only when the variant is present on ... the gene.The CDKN1C gene variants that cause IMAGe syndrome replace single amino acids in a region known ...
    https://medlineplus.gov/genetics/gene/cdkn1c - Genetics
  3. 3-M syndrome 
    ... bone age may be apparent in x-ray images.A variant of 3-M syndrome called Yakut short stature syndrome has been identified ...
    https://medlineplus.gov/genetics/condition/3-m-syndrome - Genetics
  4. Heterotaxy syndrome 
    ... a situation known as "situs inversus." This mirror-image orientation usually does not cause any health problems, unless it occurs as part of a syndrome affecting other parts of the body. Heterotaxy syndrome ...
    https://medlineplus.gov/genetics/condition/heterotaxy-syndrome - Genetics
  5. Larsen syndrome 
    ... and ankles that are visible on x-ray images. The tips of their fingers, especially the thumbs, are typically blunt and square-shaped (spatulate). Characteristic facial features in people with Larsen syndrome include a prominent forehead (frontal bossing), flattening of ...
    https://medlineplus.gov/genetics/condition/larsen-syndrome - Genetics
  6. Distal 18q deletion syndrome 
    ... MS, Tienari PJ, Wirtavuori KO, Valanne LK. 18q-syndrome: brain MRI shows poor differentiation of gray and white matter on T2-weighted images. J Magn Reson Imaging. 2003 Oct;18(4): ...
    https://medlineplus.gov/.../condition/distal-18q-deletion-syndrome - Genetics
  7. Nephronophthisis 
    ... can include liver fibrosis, heart abnormalities, or mirror image reversal of the position of one or more organs inside the body (situs inversus).Nephronophthisis can occur as part of separate syndromes that affect other areas of the body; these ...
    https://medlineplus.gov/genetics/condition/nephronophthisis - Genetics
  8. 15q11-q13 duplication syndrome 
    ... in about 80 percent of people with dup15q syndrome, is called an isodicentric chromosome 15. An isodicentric chromosome contains mirror-image segments of genetic material and has two constriction ...
    https://medlineplus.gov/.../condition/15q11-q13-duplication-syndrome - Genetics
  9. Chromosome 15 
    ... in about 80 percent of people with dup15q syndrome, is called an isodicentric chromosome 15. An isodicentric chromosome contains mirror-image segments of genetic material and has two constriction ...
    https://medlineplus.gov/genetics/chromosome/15 - Genetics
  10. Carpenter syndrome 
    ... undescended testes (cryptorchidism).A few people with Carpenter syndrome have organs or tissues within their chest and abdomen that are in mirror-image reversed positions. This abnormal placement may affect several ...
    https://medlineplus.gov/genetics/condition/carpenter-syndrome - Genetics
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