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  2. Harlequin-type ichthyosis - Wikipedia

    en.wikipedia.org/wiki/Harlequin-type_ichthyosis

    The back part of the head was much open. It made a strange kind of noise, very low, which I cannot describe. It lived about forty-eight hours and was alive when I saw it." [23] The harlequin-type designation comes from the diamond shape of the scales at birth (resembling the costume of Arlecchino).

  3. Cleidocranial dysostosis - Wikipedia

    en.wikipedia.org/wiki/Cleidocranial_dysostosis

    Cleidocranial dysostosis (CCD), also called cleidocranial dysplasia, is a birth defect that mostly affects the bones and teeth. [1] The collarbones are typically either poorly developed or absent, which allows the shoulders to be brought close together. [1]

  4. Seckel syndrome - Wikipedia

    en.wikipedia.org/wiki/Seckel_syndrome

    It is believed to be caused by defects of genes on chromosome 3 and 18. One form of Seckel syndrome can be caused by mutation in the gene encoding the ataxia telangiectasia and Rad3-related protein which maps to chromosome 3q22.1–q24. This gene is central in the cell's DNA damage response and repair mechanism. Types include:

  5. Birth defect - Wikipedia

    en.wikipedia.org/wiki/Birth_defect

    Birth defects may result in disabilities that may be physical, intellectual, or developmental. [2] The disabilities can range from mild to severe. [6] Birth defects are divided into two main types: structural disorders in which problems are seen with the shape of a body part and functional disorders in which problems exist with how a body part ...

  6. Vaginal anomalies - Wikipedia

    en.wikipedia.org/wiki/Vaginal_anomalies

    [2] [6] [7] [8] Many vaginal anomalies are not detected at birth because the external genitalia appear to be normal. [2] Other organs of the reproductive system may not be affected by an abnormality of the vagina. The uterus, fallopian tubes and ovaries can be functional despite the presence of a defect of the vagina and external genitalia. [2]

  7. Saethre–Chotzen syndrome - Wikipedia

    en.wikipedia.org/wiki/Saethre–Chotzen_syndrome

    The TWIST gene in mice, functions in the development of the muscle and skeleton of the face, head, hands, and feet. Mice that were lacking both copies of the TWIST gene were spontaneously aborted prior to birth, and had serious deformities including abnormal limb and head defects and failure of the neural tube to properly close. However, mice ...

  8. List of fetal abnormalities - Wikipedia

    en.wikipedia.org/wiki/List_of_fetal_abnormalities

    Fetal abnormalities are conditions that affect a fetus or embryo, are able to be diagnosed prenatally, and may be fatal or cause disease after birth. They may include aneuploidies, structural abnormalities, or neoplasms. Acardiac twin; Achondrogenesis; Achondroplasia

  9. Caudal regression syndrome - Wikipedia

    en.wikipedia.org/wiki/Caudal_regression_syndrome

    Caudal regression syndrome, or sacral agenesis (or hypoplasia of the sacrum), is a rare birth defect. It is a congenital disorder in which the fetal development of the lower spine—the caudal partition of the spine—is abnormal. [1] It occurs at a rate of approximately one per 60,000 live births. [2]