Brooke-Spiegler syndrome

ORPHA: 79493

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 Brooke-Spiegler syndrome, sourced from HPO and Orphanet clinical annotations.

CylindromaAbnormality of the faceAbnormality of the neckAbnormal scalp morphologySkin appendage neoplasmTrichoepitheliomaSkin noduleAbnormal bleedingBasal cell carcinomaMultiple cutaneous malignanciesNodular changes affecting the eyelidsSkin-colored papuleSkin ulcerHearing impairmentAbnormal auditory canal morphologyVisual impairmentAbnormality of the submandibular glandsAbnormality of the sublingual glandsFacial palsySalivary gland neoplasm

Classification & Codes

Orphanet Code

ORPHA:79493
Brooke-Spiegler syndrome
OrphanetORPHA:79493
Treatments0 drug(s)
Symptoms on record20 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
Brooke-Spiegler syndrome | OrphanDrug