Meckel syndrome 8
ORPHA: 90674
Overview
Meckel syndrome that has material basis in an autosomal recessive mutation of TCTN2 on chromosome 12q24.31
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 Meckel syndrome 8, sourced from HPO and Orphanet clinical annotations.
Thyroid hypoplasiaPituitary hypothyroidismAbnormal circulating thyroglobulin concentrationDecreased thyroid-stimulating hormone levelIncreased pituitary glycoprotein hormone alpha subunit levelReduced radioactive iodine uptakeDecreased circulating T4 concentrationMacroorchidismMacroglossiaDelayed cranial suture closureFacial edemaIncreased circulating prolactin concentrationDry skinHyporeflexiaFailure to thriveGrowth delayUmbilical herniaHoarse voiceHoarse cryConstipationHypothermiaLarge sella turcicaDelayed skeletal maturationHypercholesterolemiaNeonatal hyperbilirubinemiaLarge posterior fontanelleDepressed nasal bridgeAbnormal epiphysis morphologyProlonged neonatal jaundiceDelayed proximal femoral epiphyseal ossificationFeeding difficulties in infancyFatigueNeurodevelopmental delayHypotoniaLethargyBradycardiaClumsinessAttention deficit hyperactivity disorderDepressionGoiter
Classification & Codes
Orphanet Code
ORPHA:90674Meckel syndrome 8
| Orphanet | ORPHA:90674 |
| Treatments | 0 drug(s) |
| Symptoms on record | 40 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO