retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
ORPHA: 436245
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 retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome, sourced from HPO and Orphanet clinical annotations.
Underdeveloped nasal alaeRod-cone dystrophyProgressive visual lossJuvenile cataractGlobal developmental delayAbnormal facial shapeModerate intellectual disabilityShort statureProgressive night blindnessMalar flatteningMicrognathiaLow-set earsShort neckUpslanted palpebral fissureDental malocclusionDiastemaConstriction of peripheral visual fieldBrachydactylySpecific learning disabilityIncoordinationPoor fine motor coordinationPatchy atrophy of the retinal pigment epitheliumUndetectable visual evoked potentialsAttached earlobeBroad columellaMacrotiaDownslanted palpebral fissures
Classification & Codes
Orphanet Code
ORPHA:436245retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
| Orphanet | ORPHA:436245 |
| Treatments | 0 drug(s) |
| Symptoms on record | 27 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO