pseudo-Hurler polydystrophy

ICD-10: E77.0ORPHA: 423461

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 pseudo-Hurler polydystrophy, sourced from HPO and Orphanet clinical annotations.

Joint stiffnessShort staturePostnatal growth retardationOligosacchariduriaGingival overgrowthCoarse facial featuresEpicanthusFull cheeksRecurrent otitis mediaConductive hearing impairmentShort neckDysostosis multiplexThickened skinGait disturbanceFlexion contractureMitral regurgitationAortic regurgitationBone painKyphoscoliosisDepressed nasal bridgeAbdominal wall muscle weaknessKeratan sulfate excretion in urineGeneralized osteoporosisUmbilical herniaDiastasis rectiHoarse voiceCongestive heart failureRight ventricular hypertrophyLoss of ambulationRecurrent upper respiratory tract infectionsOsteolysisCorneal opacityConstrictive median neuropathyCognitive impairmentSensorineural hearing impairmentProptosis

Classification & Codes

ICD-10 Code

E77.0

Orphanet Code

ORPHA:423461
pseudo-Hurler polydystrophy
ICD-10E77.0
OrphanetORPHA:423461
Treatments0 drug(s)
Symptoms on record36 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO