night blindness-skeletal anomalies-dysmorphism syndrome
ORPHA: 1390
Overview
This syndrome is characterized by night blindness, skeletal abnormalities (sloping shoulders, joint hyperextensibility, minor radiological anomalies) and characteristic facies (periorbital anomalies, malar flatness, retrognathia)
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 night blindness-skeletal anomalies-dysmorphism syndrome, sourced from HPO and Orphanet clinical annotations.
Joint hypermobilityAbnormal palate morphologyMalar flatteningRetrognathiaEpicanthusPtosisAbnormal electroretinogramMyopiaNyctalopiaSynophrysCarious teethBrachydactylyAbnormal retinal vascular morphologyDown-sloping shouldersAbnormality of the noseDownslanted palpebral fissuresHeterochromia iridisHypertoniaScoliosisClinodactyly of the 5th fingerAbnormal retinal pigmentationCognitive impairmentPosteriorly rotated ears
Classification & Codes
Orphanet Code
ORPHA:1390night blindness-skeletal anomalies-dysmorphism syndrome
| Orphanet | ORPHA:1390 |
| Treatments | 0 drug(s) |
| Symptoms on record | 23 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO