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Results 1 - 10 of 12 for Thyroid hypoplasia
  1. SLC26A4 gene 
    ... been associated with an abnormally small thyroid gland (thyroid hypoplasia) that causes a loss of thyroid function from ... It is unclear whether Pendred syndrome, DFNB4, and thyroid hypoplasia caused by SLC26A4 gene mutations are best considered ...
    https://medlineplus.gov/genetics/gene/slc26a4 - Genetics
  2. Pendred syndrome 
    ... hypothyroidism resulting from an abnormally small thyroid gland (thyroid hypoplasia). All of these conditions are caused by mutations ... an increasingly complex phenotypic spectrum from goiter to thyroid hypoplasia. J Clin Endocrinol Metab. 2014 Jan;99(1): ...
    https://medlineplus.gov/genetics/condition/pendred-syndrome - Genetics
  3. PAX8 gene 
    ... S, Vassart G. Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8. ...
    https://medlineplus.gov/genetics/gene/pax8 - Genetics
  4. TSHR gene 
    ... Mutations of the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism. J Clin Endocrinol Metab. ... the main causative locus in autosomal recessively inherited thyroid dysgenesis. J Pediatr Endocrinol Metab. 2012;25(5-6): ...
    https://medlineplus.gov/genetics/gene/tshr - Genetics
  5. Congenital hypothyroidism 
    ... or abnormally located. These cases are classified as thyroid dysgenesis. In the remainder of cases, a normal-sized ... of the most common type of congenital hypothyroidism, thyroid dysgenesis, is usually unknown. Studies suggest that 2 to ...
    https://medlineplus.gov/genetics/condition/congenital-hypothyroidism - Genetics
  6. Congenital Hypothyroidism (Endocrine Society)  
    Endocrine Society ... Hypothyroidism/Children ... Hypothyroidism ... About 1 in every 2,000 to 4,000 babies is born with congenital hypothyroidism. Newborn babies who ...
    https://www.endocrine.org/.../congenital-hypothyroidism - External Health Links
  7. Distal 18q deletion syndrome 
    ... roof of the mouth (cleft palate), an underactive thyroid gland ... (midface hypoplasia), a wide mouth, and prominent ears. These features ...
    https://medlineplus.gov/.../condition/distal-18q-deletion-syndrome - Genetics
  8. SEPSECS gene 
    ... also play a role in turning on (activating) thyroid hormones and are involved in immune ... called pontocerebellar hypoplasia. The major features of this condition include delayed ...
    https://medlineplus.gov/genetics/gene/sepsecs - Genetics
  9. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy 
    ... to conceive children (infertility); and dysfunction of the thyroid gland (a ... and chronic diarrhea or constipation associated with difficulty ...
    https://medlineplus.gov/...inopathy-candidiasis-ectodermal-dystrophy - Genetics
  10. Allan-Herndon-Dudley syndrome 
    ... tone (hypotonia) and underdevelopment of many muscles (muscle hypoplasia). As they ... gland in the lower neck called the thyroid. T3 appears to be critical for the normal ...
    https://medlineplus.gov/.../condition/allan-herndon-dudley-syndrome - Genetics
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