amaurosis-hypertrichosis syndrome

MeSH: C536604ORPHA: 1021

Overview

medical condition

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 amaurosis-hypertrichosis syndrome, sourced from HPO and Orphanet clinical annotations.

Abnormal eyelash morphologyVisual impairmentCone/cone-rod dystrophyRetinal dystrophyThick eyebrowPhotophobiaNystagmusOptic atrophySynophrysCoarse hairHigh hypermetropia

Classification & Codes

MeSH Code

C536604

Orphanet Code

ORPHA:1021
amaurosis-hypertrichosis syndrome
MeSHC536604
OrphanetORPHA:1021
Treatments0 drug(s)
Symptoms on record11 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
amaurosis-hypertrichosis syndrome | OrphanDrug