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Results 1 - 10 of 24 for Congenital abnormal hair pattern
  1. JUP gene 
    ... mutations in this gene lead to these different patterns of features.At least one ... and abnormal fingernails. The skin abnormalities lead to a severe ...
    https://medlineplus.gov/genetics/gene/jup - Genetics
  2. Björnstad syndrome 
    ... believe that tissues in the inner ears and hair follicles are particularly sensitive to reactive oxygen species and ... Björnstad syndrome is inherited in an autosomal recessive pattern, which means both copies of the gene in ...
    https://medlineplus.gov/genetics/condition/bjornstad-syndrome - Genetics
  3. WNT4 gene 
    ... This Health Condition MedlinePlus Genetics provides ... despite the chromosome pattern typical of females. SERKAL syndrome has been reported ...
    https://medlineplus.gov/genetics/gene/wnt4 - Genetics
  4. X-linked chondrodysplasia punctata 2 
    ... on the right and left sides, and progressive abnormal curvature of the spine ... (follicular atrophoderma). Most affected individuals also have sparse, ...
    https://medlineplus.gov/.../x-linked-chondrodysplasia-punctata-2 - Genetics
  5. Autosomal recessive hypotrichosis 
    ... 2008 Oct 2. Citation on PubMed Shimomura Y. Congenital hair loss disorders: rare, but not too rare. J ...
    https://medlineplus.gov/.../autosomal-recessive-hypotrichosis - Genetics
  6. T-cell immunodeficiency, congenital alopecia, and nail dystrophy 
    ... and nail dystrophy also affects growth of the hair and nails. Congenital alopecia refers to an absence of hair that is apparent from birth. Affected individuals have ...
    https://medlineplus.gov/...cy-congenital-alopecia-and-nail-dystrophy - Genetics
  7. Congenital generalized lipodystrophy 
    ... xanthomas and inflammation of the pancreas (pancreatitis). Additionally, congenital generalized lipodystrophy causes an abnormal buildup of fats in the liver (hepatic steatosis), ...
    https://medlineplus.gov/.../congenital-generalized-lipodystrophy - Genetics
  8. Porphyria 
    ... scarring, changes in skin coloring (pigmentation), and increased hair growth. Cutaneous porphyrias include congenital erythropoietic porphyria, erythropoietic protoporphyria, hepatoerythropoietic porphyria, and porphyria ...
    https://medlineplus.gov/genetics/condition/porphyria -
  9. Waardenburg syndrome 
    ... disrupt the normal development of melanocytes, leading to abnormal pigmentation of the skin, hair, and eyes and problems with hearing.Waardenburg syndrome ...
    https://medlineplus.gov/genetics/condition/waardenburg-syndrome - Genetics
  10. Nonbullous congenital ichthyosiform erythroderma 
    ... palmoplantar keratoderma), decreased or absent sweating (anhidrosis), and abnormal nails (nail dystrophy). In severe cases, there is an absence of hair growth (alopecia) in certain areas, often affecting the ...
    https://medlineplus.gov/...ous-congenital-ichthyosiform-erythroderma - Genetics
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