Pendred syndrome

MeSH: C536648ORPHA: 705

Overview

genetic disorder

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 Pendred syndrome, sourced from HPO and Orphanet clinical annotations.

Abnormality of the inner earSensorineural hearing impairmentHypoplasia of the cochleaEnlarged vestibular aqueductHypothyroidismGoiterNephropathyHyperparathyroidismIntellectual disabilityAtaxiaRespiratory insufficiencyAbnormal speech patternVertigoTracheal stenosisThyroid carcinoma

Classification & Codes

MeSH Code

C536648

Orphanet Code

ORPHA:705
Pendred syndrome
MeSHC536648
OrphanetORPHA:705
Treatments0 drug(s)
Symptoms on record15 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
Pendred syndrome | OrphanDrug