congenital nongoitrous hypothryoidism 5
ORPHA: 90673
Overview
congenital hypothyroidism that has material basis in heterozygous mutation in the NKX2-5 gene on chromosome 5q35
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 nongoitrous hypothryoidism 5, sourced from HPO and Orphanet clinical annotations.
Impaired sensitivity to thyroid stimulating hormoneCongenital hypothyroidismElevated circulating thyroid-stimulating hormone concentrationProlonged neonatal jaundiceIncreased circulating thyroglobulin concentrationReduced radioactive iodine uptakeDecreased circulating T4 concentrationMacroglossiaLethargyHyporeflexiaUmbilical herniaBradycardiaConstipationNeonatal hyperbilirubinemiaLarge posterior fontanelleAbnormal epiphysis morphologyThyroid hypoplasiaCompensated hypothyroidismDelayed proximal femoral epiphyseal ossificationFeeding difficulties in infancyAbnormal cryIncreased radioactive iodine uptakeEdemaHypotoniaHypothermia
Classification & Codes
Orphanet Code
ORPHA:90673congenital nongoitrous hypothryoidism 5
| Orphanet | ORPHA:90673 |
| Treatments | 0 drug(s) |
| Symptoms on record | 25 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO