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  1. FGFR1-Related Hartsfield Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK349073
    ... anomalies, in particular intracranial and spinal lipomas. Differential Diagnosis Holoprosencephaly (HPE). See Holoprosencephaly Overview . Ectrodactyly, ectodermal dysplasia, cleft ...
  2. Holoprosencephaly Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1530
    ... Crespo L, Michia C, Igarzabal L, Gadow E. Holoprosencephaly at prenatal diagnosis: Analysis of 28 cases regarding etiopathogenic diagnoses. Prenatal Diagnosis. 2011;31:887–891. [ PubMed : ... evaluation of newly diagnosed holoprosencephaly patients. Am J Med Genet C Semin Med ...
  3. Nevoid Basal Cell Carcinoma Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1151
    ... role of these genes in HPE pathogenesis. (See Holoprosencephaly Overview .) Differential Diagnosis Table 3. Genes of Interest in the Differential ...
  4. PPP1R12A-Related Urogenital and/or Brain Malformation Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK573670
    ... holoprosencephaly, GU malformation) Pseudotrisomy 13 syndrome (OMIM 264480 ) (holoprosencephaly) Management No clinical practice guidelines for PPP1R12A -related UBMS have been published. Evaluations Following Initial Diagnosis To establish the extent of disease and needs ...
  5. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... affected individuals varies depending on the severity of symptoms.</html:p><html:p >People with nonsyndromic holoprosencephaly often have a small head (microcephaly), although they ...
  6. Smith-Lemli-Opitz Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1143
    ... syndrome. Other disorders to consider in the differential diagnosis of SLOS include the following (shared clinical findings are indicated in parentheses): Trisomy 13 syndrome (holoprosencephaly, cleft lip and cleft palate, cardiac defects, polydactyly) ...
  7. Strømme Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK586170
    ... may reveal corpus callosum agenesis, hydrocephalus, pachygyria, lissencephaly, holoprosencephaly, cerebral and ... the Diagnosis The diagnosis of Strømme syndrome ...
  8. Trisomy 13 
    https://medlineplus.gov/ency/article/001660.htm
    ... structure of the brain. The problem is called holoprosencephaly. It is the joining together of the 2 sides of the brain. Chromosome studies show trisomy 13, trisomy 13 mosaicism, or partial trisomy. Rarely, the extra material may be attached to another chromosome (translocation).
  9. Nonsyndromic holoprosencephaly 
    https://medlineplus.gov/.../condition/nonsyndromic-holoprosencephaly
    ... move to their proper position. The signs and symptoms of nonsyndromic holoprosencephaly are caused by abnormal development of the brain ... NCBI Gene: DISP1 FOXH1 GLI2 ... However, not all people with a gene mutation will develop signs and symptoms of the condition.In some cases, an affected ...
  10. PTCH1 gene 
    https://medlineplus.gov/genetics/gene/ptch1
    ... for normal brain cell patterning. The signs and symptoms of nonsyndromic holoprosencephaly are caused by abnormal development of the brain ... for normal brain cell patterning. The signs and symptoms of nonsyndromic holoprosencephaly are caused by abnormal development of the brain ...
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