thyroid ectopy
ORPHA: 95712
Overview
Thyroid ectopia is a form of thyroid dysgenesis (see this term) characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with thyroid ectopy, sourced from HPO and Orphanet clinical annotations.
Severe intellectual disabilityFatigueCold intoleranceDysphoniaDysphagiaEctopic thyroidMacroglossiaLarge fontanellesAbnormality of the faceCoarse facial featuresAbnormality of the thyroid glandHypothyroidismJaundiceHypotoniaMuscle weaknessUmbilical herniaConstipationElevated circulating thyroid-stimulating hormone concentrationAbdominal distentionLingual thyroidExcessive daytime somnolenceDry skinGlobal developmental delayGrowth delayHoarse voiceShort stature
Classification & Codes
Orphanet Code
ORPHA:95712thyroid ectopy
| Orphanet | ORPHA:95712 |
| Treatments | 0 drug(s) |
| Symptoms on record | 26 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO