congenital hypothyroidism due to maternal intake of antithyroid drugs
ORPHA: 226313
Overview
human disease
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 congenital hypothyroidism due to maternal intake of antithyroid drugs, sourced from HPO and Orphanet clinical annotations.
Congenital hypothyroidismGoiterElevated circulating thyroid-stimulating hormone concentrationAbdominal distentionDecreased circulating T4 concentrationMacroglossiaMottled pigmentationHyporeflexiaNeonatal hypotoniaLarge for gestational ageUmbilical herniaProtuberant abdomenConstipationHypothermiaDelayed epiphyseal ossificationDepressed nasal bridgeAbnormal epiphysis morphologyProlonged neonatal jaundiceAbsent ossification of capital femoral epiphysisFeeding difficulties in infancyExcessive daytime somnolenceMoon faciesDry skinBradycardiaRespiratory distressLarge posterior fontanelle
Classification & Codes
Orphanet Code
ORPHA:226313congenital hypothyroidism due to maternal intake of antithyroid drugs
| Orphanet | ORPHA:226313 |
| Treatments | 0 drug(s) |
| Symptoms on record | 26 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO