Yemenite deaf-blind hypopigmentation syndrome
MeSH: C536771ORPHA: 3214
Overview
The Yemenite deaf-blind hypopigmentation syndrome, also called Warburg-Thomsen syndrome, is an extremely rare genetic disorder characterized by skin pigmentation abnormalities, eye disorders, and hearing loss.
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 Yemenite deaf-blind hypopigmentation syndrome, sourced from HPO and Orphanet clinical annotations.
Sensorineural hearing impairmentStrabismusNystagmusDelayed eruption of teethHyperpigmentation of the skinHypopigmented skin patchesFrecklingMacrodontiaHypopigmentation of hairMultiple cafe-au-lait spotsShort philtrumHigh foreheadMicrocorneaIris colobomaGait disturbanceIris hypopigmentationAnterior synechiae of the anterior chamberTaurodontiaHypertoniaHigh, narrow palateHigh hypermetropiaAbnormal size of the palpebral fissures
Classification & Codes
MeSH Code
C536771Orphanet Code
ORPHA:3214Yemenite deaf-blind hypopigmentation syndrome
| MeSH | C536771 |
| Orphanet | ORPHA:3214 |
| Treatments | 0 drug(s) |
| Symptoms on record | 22 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO