athyreosis
ORPHA: 95713
Overview
Athyreosis is a form of thyroid dysgenesis (see this term) characterized by complete absence of thyroid tissue 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 athyreosis, sourced from HPO and Orphanet clinical annotations.
MacroglossiaLarge fontanellesAbnormality of the faceCoarse facial featuresHypothyroidismHypotoniaMuscle weaknessConstipationAbdominal distentionThyroid agenesisFeeding difficultiesFatigueAbnormal circulating thyroglobulin concentrationExcessive daytime somnolenceFacial edemaLethargyGlobal developmental delayGrowth delayUmbilical herniaHoarse cryShort statureProlonged neonatal jaundiceUnconjugated hyperbilirubinemiaSevere intellectual disabilityColdness
Classification & Codes
Orphanet Code
ORPHA:95713athyreosis
| Orphanet | ORPHA:95713 |
| Treatments | 0 drug(s) |
| Symptoms on record | 25 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO