Myhre syndrome
MeSH: C537620ORPHA: 2588
Overview
medical condition
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 Myhre syndrome, sourced from HPO and Orphanet clinical annotations.
Narrow mouthThin vermilion borderMandibular prognathiaHypoplasia of the maxillaHearing impairmentAbnormal rib morphologyPlatyspondylyBrachydactylyIntellectual disabilityGlobal developmental delaySpecific learning disabilityJoint stiffnessIntrauterine growth retardationAbnormal pubic bone morphologySevere short statureSkeletal muscle hypertrophyShort palmCraniofacial hyperostosisLarge iliac wingMidface retrusionCryptorchidismAbnormal lip morphologyPtosisBlepharophimosisHypertensionAbnormal metaphysis morphologyThickened skinAbnormal cardiac septum morphologyEMG abnormalityAbnormal epiphysis morphologyHigh hypermetropiaShort palpebral fissureInguinal herniaAbnormal penis morphologyEpispadiasHypospadiasHypogonadismCleft palateSubmucous cleft hard palateBifid uvulaCataractAtypical behaviorPrecocious pubertyExternal genital hypoplasiaGingival cleftUnilateral cleft lipFemoral hernia
Classification & Codes
MeSH Code
C537620Orphanet Code
ORPHA:2588Myhre syndrome
| MeSH | C537620 |
| Orphanet | ORPHA:2588 |
| Treatments | 0 drug(s) |
| Symptoms on record | 47 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO