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PENDRED SYNDROME (PDS)

PENDRED SYNDROME (PDS)
THYROID HORMONOGENESIS, GENETIC DEFECT IN, IIB THYROID HORMONE ORGANIFICATION DEFECT IIB DEAFNESS WITH GOITER GOITER-
274600
OMIM = Online Mendelian Inheritance of Men
705
abnormal chloride-iodide transport protein (pendrin)
7q22.3
E07.1
rare (7.5-10:100000)
autosomal recessive
mutation in the SLC26A4 gene
most common cause of syndromic deafness
Laboratory findings    Thyroid-stimulating hormone (TSH) inc (serum)
Symptoms    contractures, joints
    ear anomalies (pits, creases)
    edema
    goiter
    hearing defect, deafness
    hypothyroidism
    onset, infancy
    onset, neonatal
    short stature