Bowen-Conradi syndrome
MeSH: C537081ORPHA: 1270
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 Bowen-Conradi syndrome, sourced from HPO and Orphanet clinical annotations.
MicrocephalySloping foreheadMicrognathiaProminent noseJoint stiffnessShort statureSevere postnatal growth retardationFeeding difficulties in infancySevere global developmental delayCryptorchidismRocker bottom footClinodactyly of the 5th fingerSevere intrauterine growth retardationCamptodactyly of fingerOrofacial cleftSeizureAbnormal lung lobationVentriculomegalyAbnormal cardiovascular system morphology
Classification & Codes
MeSH Code
C537081Orphanet Code
ORPHA:1270Bowen-Conradi syndrome
| MeSH | C537081 |
| Orphanet | ORPHA:1270 |
| Treatments | 0 drug(s) |
| Symptoms on record | 19 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO