Thyroglossal Duct Cyst, Familial

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GARD: ¹⁹ 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 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.

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

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) (Updated 08-Dec-2022)

Orphanet: ⁵⁸ A very rare inherited form of TDC characterized by a mass measuring 3 cm in diameter or less in the midline area of the neck.

Clinical features from OMIM®:

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