blindness-scoliosis-arachnodactyly syndrome

MeSH: C567309ORPHA: 171844

Overview

This syndrome associates progressive visual loss with scoliosis or kyphoscoliosis and arachnodactyly of the fingers and toes

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 blindness-scoliosis-arachnodactyly syndrome, sourced from HPO and Orphanet clinical annotations.

Visual lossBlindnessArachnodactylyScoliosisStrabismusCataractRetinal detachmentEsotropiaLens subluxationAbnormal retinal pigmentationMicrophakia

Classification & Codes

MeSH Code

C567309

Orphanet Code

ORPHA:171844
blindness-scoliosis-arachnodactyly syndrome
MeSHC567309
OrphanetORPHA:171844
Treatments0 drug(s)
Symptoms on record11 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
blindness-scoliosis-arachnodactyly syndrome | OrphanDrug