Smith-Magenis syndrome

MeSH: D058496ORPHA: 8191 Treatment Available

Contents

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

Overview

Human disease

Available Treatments (1)

Drug	Form	Status	Countries	Lead Time
melatonin Orphan	oral tablet 2mg, 5mg; prolonged-release tablet 2mg; oral liquid 1mg/mL	EMA Approved, FDA OTC	9	7d

Clinical Presentation

Signs and symptoms associated with Smith-Magenis syndrome, sourced from HPO and Orphanet clinical annotations.

Abnormality of the dentitionBrachycephalyBroad foreheadRecurrent otitis mediaWide nasal bridgeDeeply set eyeUpslanted palpebral fissureSynophrysTaurodontiaDelayed eruption of primary teethMotor stereotypyAnxietyDelayed speech and language developmentBrachydactylyIntellectual disabilityHypotoniaGlobal developmental delayHyporeflexiaObesityHoarse voiceFrontal bossingAbnormal speech patternSleep disturbanceDepressed nasal bridgeAbnormal tracheobronchial morphologyAttention deficit hyperactivity disorderTented upper lip vermilionMidface retrusionAbnormal pineal melatonin secretionSelf-injurious behaviorLarge faceOpen mouthVelopharyngeal insufficiencyCoarse facial featuresMandibular prognathiaHypertelorismSquare faceShort philtrumMicrognathiaConductive hearing impairmentAnteverted naresMicrocorneaStrabismusMyopiaBroad palmGait disturbanceFailure to thrive in infancyDecreased fetal movementAbnormal heart morphologyPes planusToe syndactylyConstipationGastroesophageal refluxVentriculomegalyHypertriglyceridemiaEEG abnormalityScoliosisRecurrent upper respiratory tract infectionsHypercholesterolemiaShort noseClinodactyly of the 5th fingerShort statureSleep-wake cycle disturbanceImpaired pain sensationAplasia/Hypoplasia of the corpus callosumFeeding difficulties in infancyPeripheral neuropathyHyperacusisAbnormal temper tantrumsTip-toe gaitAbnormal cardiovascular system morphologyVocal cord polypPolyembolokoilamaniaOnychotillomaniaCognitive impairmentImpulsivityShort REM sleepAbnormality of the ureterAbnormality of the genitourinary systemCleft palateCleft upper lipMicrocephalyRetinal detachmentHypothyroidismDelayed pubertyPrecocious pubertyHand polydactylySeizureJoint stiffnessDecreased circulating IgA concentrationRenal hypoplasia/aplasiaSleep apneaArrhythmiaIris noduleAbnormal localization of kidney

Classification & Codes

MeSH Code

D058496

Orphanet Code

ORPHA:819

Smith-Magenis syndrome

MeSH	`D058496`
Orphanet	`ORPHA:819`
Treatments	1 drug(s)
Symptoms on record	95 signs
Status	published

Treatment Summary

melatonin· Orphan

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO