Ehlers-Danlos syndrome, musculocontractural type
MeSH: C000600608ORPHA: 2953
Available Treatments (0)
No treatments linked yet
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Clinical Presentation
Signs and symptoms associated with Ehlers-Danlos syndrome, musculocontractural type, sourced from HPO and Orphanet clinical annotations.
CryptorchidismNarrow mouthHigh palateThin upper lip vermilionLarge fontanellesHypertelorismLong philtrumMacrotiaProtruding earDownslanted palpebral fissuresBlue scleraeAbnormal sternum morphologyHyperextensible skinBruising susceptibilityAtrophic scarsSlender fingerMuscle weaknessDisproportionate tall statureAbnormal bleedingSubcutaneous hemorrhageDelayed gross motor developmentScoliosisGeneralized joint hypermobilityArthrogryposis multiplex congenitaShort noseDecreased muscle massAbnormality of the cervical spineProminent nasolabial foldDecreased palmar creasesDysesthesiaRecurrent joint dislocationMicroretrognathiaAstigmatismStrabismusRetinal detachmentMyopiaTapered fingerRecurrent skin infectionsRedundant skinConstipationKyphoscoliosisCervical kyphosisMyopathyOcular hypertensionThoracic lordosisFunctional abnormality of the bladderHydronephrosisCleft palateHearing impairmentGlaucomaNephrolithiasisCraniosynostosisAbnormal heart morphologyAbnormal heart valve morphologyPneumothoraxVentriculomegalyAtlantoaxial dislocationAbnormal mesentery morphologyCleft lipInguinal herniaHorseshoe kidneyMalrotation of small bowelPosteriorly rotated earsAbnormal pinna morphology
Classification & Codes
MeSH Code
C000600608Orphanet Code
ORPHA:2953Ehlers-Danlos syndrome, musculocontractural type
| MeSH | C000600608 |
| Orphanet | ORPHA:2953 |
| Treatments | 0 drug(s) |
| Symptoms on record | 64 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO