alpha-mannosidosis, infantile form

ORPHA: 309282

Contents

1. Overview
2. Available Treatments
3. Clinical Presentation
4. Classification & Codes

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 alpha-mannosidosis, infantile form, sourced from HPO and Orphanet clinical annotations.

Otitis mediaDelayed speech and language developmentDysostosis multiplexIntellectual disabilitySpecific learning disabilityRecurrent infectionsImmunodeficiencyOligosacchariduriaAbnormal skeletal morphologyAbnormal circulating enzyme concentration or activityCoarse facial featuresHypertelorismMixed hearing impairmentStrabismusCataractHypermetropiaMyopiaShort attention spanAtaxiaHypotoniaMild intellectual disabilityMotor delayHepatosplenomegalyPneumoniaMyopathyFacial shape deformationAstheniaRecurrent gastroenteritisMacroglossiaBrachycephalyMacrocephalyFacial hypotoniaMandibular prognathiaBroad foreheadSensorineural hearing impairmentShort neckAstigmatismProptosisOptic disc pallorWidely spaced teethAtypical behaviorDepressionHallucinationsAnxietyDelusionPectus excavatumPectus carinatumThickened ribsPlatyspondylyOsteopeniaSoft skinSpastic paraplegiaCerebellar atrophyConfusionCraniosynostosisJoint hypermobilityJoint stiffnessDisproportionate tall statureUmbilical herniaMitral regurgitationBilateral talipes equinovarusPancytopeniaCerebral cortical atrophyChiari malformationClumsinessDrowsinessHighly arched eyebrowAbnormal sella turcica morphologyThickened calvariaOsteolysisGenu valgumCranial hyperostosisTalipes valgusDepressed nasal bridgeCortical thickening of long bone diaphysesCorneal opacityHypoplastic inferior iliaAxial hypotoniaBilateral coxa valgaAvascular necrosisProminent foreheadSubcortical cerebral atrophyFlat faceAbnormality of the sphenoid sinusRecurrent urinary tract infectionsCommunicating hydrocephalusAortic regurgitationLoss of speech

Classification & Codes

Orphanet Code

ORPHA:309282

alpha-mannosidosis, infantile form

Orphanet	`ORPHA:309282`
Treatments	0 drug(s)
Symptoms on record	88 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO