brain-lung-thyroid syndrome
MeSH: C567034ORPHA: 209905
Overview
rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms)
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 brain-lung-thyroid syndrome, sourced from HPO and Orphanet clinical annotations.
MegacystisHypospadiasVesicoureteral refluxMicrocephalyWebbed neckHypodontiaCompulsive behaviorsShort attention spanHyperactivityHypoparathyroidismAgenesis of corpus callosumPatent foramen ovaleUnexplained feversAbnormal facial shapeAsthmaPulmonary fibrosisSleep disturbanceCavum septum pellucidumFallsAbnormal sella turcica morphologyRespiratory failureShort statureAbnormal drinking behaviorAbnormal eating behaviorSchizophreniaAbnormality of the thyroid glandAbnormality of the nervous systemCongenital hypothyroidismAtaxiaChoreoathetosisChoreaAbnormality of the respiratory systemRespiratory distressNeonatal respiratory distressFloppy infantSensorineural hearing impairmentMild intellectual disabilityDysarthriaGlobal developmental delayMotor delayDystoniaMyoclonusFailure to thriveGrowth delayVentricular septal defectAtrial septal defectAbnormal cardiac septum morphologyIntention tremorPulmonary arterial hypertensionApraxiaRecurrent respiratory infectionsIncoordinationClumsinessElevated circulating thyroid-stimulating hormone concentrationInvoluntary movementsAbnormal pulmonary interstitial morphologyRecurrent pneumoniaThyroid dysgenesisCompensated hypothyroidismThyroid hemiagenesis
Classification & Codes
MeSH Code
C567034Orphanet Code
ORPHA:209905brain-lung-thyroid syndrome
| MeSH | C567034 |
| Orphanet | ORPHA:209905 |
| Treatments | 0 drug(s) |
| Symptoms on record | 60 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO