brain malformation-congenital heart disease-postaxial polydactyly syndrome
ORPHA: 75389
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 malformation-congenital heart disease-postaxial polydactyly syndrome, sourced from HPO and Orphanet clinical annotations.
Renal hypoplasiaEverted lower lip vermilionLong philtrumAbnormal pinna morphologyAnteverted naresUpslanted palpebral fissurePostaxial hand polydactylyHypotoniaCerebellar hypoplasiaIntrauterine growth retardationAlopeciaVentricular septal defectAtrial septal defectCoarse hairBrittle hairShort staturePulmonary artery stenosisDepressed nasal bridgeWide intermamillary distanceAplasia/Hypoplasia of the cerebellar vermisNail dystrophySevere global developmental delayAbnormality of the anterior pituitaryPosterior pituitary hypoplasia
Classification & Codes
Orphanet Code
ORPHA:75389brain malformation-congenital heart disease-postaxial polydactyly syndrome
| Orphanet | ORPHA:75389 |
| Treatments | 0 drug(s) |
| Symptoms on record | 24 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO