idiopathic congenital hypothyroidism
ORPHA: 95717
Overview
Idiopathic congenital hypothyroidism is a type of primary congenital hypothyroidism (see this term) whose cause and prevalence are unknown
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 idiopathic congenital hypothyroidism, sourced from HPO and Orphanet clinical annotations.
Elevated circulating thyroid-stimulating hormone concentrationDecreased circulating T4 concentrationDelayed cranial suture closureUmbilical herniaConstipationLarge posterior fontanelleAbnormal epiphysis morphologyProlonged neonatal jaundiceDelayed proximal femoral epiphyseal ossificationFeeding difficulties in infancyNeurodevelopmental delayMacroglossiaFacial edemaHypotoniaLethargyHyporeflexiaBradycardiaHypothermiaNeonatal hyperbilirubinemiaDepressed nasal bridge
Classification & Codes
Orphanet Code
ORPHA:95717idiopathic congenital hypothyroidism
| Orphanet | ORPHA:95717 |
| Treatments | 0 drug(s) |
| Symptoms on record | 20 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO