FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome
ORPHA: 404451
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 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome, sourced from HPO and Orphanet clinical annotations.
CryptorchidismMacular degenerationDelayed speech and language developmentSyndactylyDysarthriaMotor delaySpastic tetraparesisDystoniaCerebral cortical atrophyPseudobulbar signsDroolingModerate intellectual disabilitySyringomyeliaNonprogressive encephalopathyCongenital bilateral hip dislocationChoroidal neovascularizationInfantile spasmsDelayed ability to walk
Classification & Codes
Orphanet Code
ORPHA:404451FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome
| Orphanet | ORPHA:404451 |
| Treatments | 0 drug(s) |
| Symptoms on record | 18 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO