Thyroglossal Duct Cyst, Familial

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OMIM 57 188455 Orphanet 59 ORPHA93953 UMLS via Orphanet 74 C3495590

ICD10 via Orphanet 34 Q89.2 UMLS 73 C3495590 C0040124

NIH Rare Diseases : ⁵³ Familial thyroglossal duct cyst is a rare hereditary form of a benign congenital neck mass, known as a thyroglossal duct cyst (TDC). TDC is the most common congenital midline neck mass in the pediatric population. They usually present in children, around 6 years of age, but rarely, they may present in adulthood. They present as a painless, palpable mass that develops around the midline and moves with swallowing. Other symptoms might include: fluctuation in size of mass, dysphagia, infection of mass, and mid-neck tenderness. TDCs are caused by abnormal development of the thyroid gland in fetal development. The cause of this abnormal development is largely not known and usually sporadic; however, in rare circumstances TDCs can be inherited. Familial TDC are commonly inherited in an autosomal dominant pattern with rare reports of autosomal recessive inheritance. Treatment involves surgery to remove the cyst (mass).

MalaCards based summary : Thyroglossal Duct Cyst, Familial, also known as familial thyroglossal duct cyst, is related to papillary carcinoma and thyroid cancer, nonmedullary, 1. An important gene associated with Thyroglossal Duct Cyst, Familial is NKX2-1 (NK2 Homeobox 1). Affiliated tissues include thyroid.

OMIM : ⁵⁷ Thyroglossal duct cysts are common benign cervical masses. They represent a remnant of the thyroglossal duct that fails to regress during fetal development. Nearly all cases present sporadically in young children as slowly enlarging midline neck mass (summary by Greinwald et al., 1996). (188455)

Clinical features from OMIM:

188455

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