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Results 1 - 10 of 423 for Congenital skin disorder
  1. Bart-Pumphrey syndrome 
    Bart-Pumphrey syndrome is characterized by nail and skin abnormalities and hearing loss.People with Bart-Pumphrey syndrome ... and soles of the feet (palmoplantar keratoderma). The skin abnormalities generally become noticeable during childhood.The hearing loss ...
    https://medlineplus.gov/genetics/condition/bart-pumphrey-syndrome - Genetics
  2. Palmoplantar keratoderma with deafness 
    ... keratoderma with deafness is a disorder characterized by skin abnormalities and hearing loss. Affected individuals develop unusually thick ... the same family, with some individuals developing only skin abnormalities and others developing only hearing loss. Palmoplantar keratoderma ...
    https://medlineplus.gov/.../palmoplantar-keratoderma-with-deafness - Genetics
  3. Beare-Stevenson cutis gyrata syndrome 
    ... syndrome is a genetic disorder that typically features skin abnormalities and the premature fusion of certain bones of ... brain, causing delayed development and intellectual disability.A skin abnormality called cutis gyrata is also characteristic of this ...
    https://medlineplus.gov/.../beare-stevenson-cutis-gyrata-syndrome - Genetics
  4. Keratitis-ichthyosis-deafness syndrome 
    ... deafness (KID) syndrome is characterized by eye problems, skin abnormalities, and hearing loss.People with KID syndrome usually ...
    https://medlineplus.gov/.../keratitis-ichthyosis-deafness-syndrome - Genetics
  5. SADDAN 
    ... of bone growth characterized by skeletal, brain, and skin abnormalities.All people with this condition have extremely short ...
    https://medlineplus.gov/genetics/condition/saddan - Genetics
  6. Harlequin ichthyosis 
    ... that are separated by deep cracks (fissures). These skin abnormalities affect the shape of the eyelids, nose, mouth, ... between the body and its surrounding environment. The skin abnormalities associated with harlequin ichthyosis disrupt this barrier, making ...
    https://medlineplus.gov/genetics/condition/harlequin-ichthyosis - Genetics
  7. Netherton syndrome 
    ... short stature.After infancy, the severity of the skin abnormalities varies among people with Netherton syndrome and can ... intermittent redness or experience outbreaks of a distinctive skin abnormality called ichthyosis linearis circumflexa, involving patches of multiple ...
    https://medlineplus.gov/genetics/condition/netherton-syndrome - Genetics
  8. Congenital hemidysplasia with ichthyosiform erythroderma and limb defects 
    ... and usually does not affect the face. The skin abnormalities are present at birth and persist throughout life. ... the same side of the body as the skin abnormalities.Additionally, CHILD syndrome may affect the development of ...
    https://medlineplus.gov/...hthyosiform-erythroderma-and-limb-defects - Genetics
  9. ABCA12 gene 
    ... an increased risk of infections; and dehydration. These skin abnormalities tend to be less severe than those in ... epidermis. Problems with this protective barrier underlie the skin abnormalities and other features of NBCIE. More About This ...
    https://medlineplus.gov/genetics/gene/abca12 - Genetics
  10. FGFR3 gene 
    ... and distinctive facial features. It also causes a skin abnormality called acanthosis nigricans that is characterized by thick, ... epidermal nevi also occur in people with another skin abnormality called seborrheic keratosis and in people with skeletal ...
    https://medlineplus.gov/genetics/gene/fgfr3 - Genetics
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