Allan-Herndon-Dudley syndrome

MeSH: C537047ORPHA: 59

Overview

congenital disorder of nervous system

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 Allan-Herndon-Dudley syndrome, sourced from HPO and Orphanet clinical annotations.

Intellectual disabilityAxial hypotoniaNarrow faceLong faceDelayed speech and language developmentPectus excavatumHypertensionHyperhidrosisAtaxiaSpasticityChoreoathetosisDystoniaHyperreflexiaFailure to thrive in infancyTachycardiaPes planusMyopathic faciesRecurrent respiratory infectionsSleep disturbanceHypokinesiaKyphoscoliosisAbnormality of thyroid physiologySkeletal muscle atrophyAbnormal pyramidal signPes valgusFeeding difficulties in infancyIncreased circulating free T3Brain atrophyDelayed myelinationDelayed ability to walkDecreased body mass indexCryptorchidismMicrocephalyNystagmusSeizureNeonatal hypotoniaBrisk reflexesFlexion contractureDecreased fetal movementAbnormality of extrapyramidal motor functionModerate intellectual disabilityPoor head controlLimb hypertoniaSpastic tetraplegiaGeneralized muscle weaknessBabinski signShort statureProlonged neonatal jaundiceAnkle clonusSmall for gestational agePolyhydramniosPremature birthMacrocephaly at birthDyskinesia

Classification & Codes

MeSH Code

C537047

Orphanet Code

ORPHA:59
Allan-Herndon-Dudley syndrome
MeSHC537047
OrphanetORPHA:59
Treatments0 drug(s)
Symptoms on record54 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO