Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
ORPHA: 300179
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 Ehlers-Danlos syndrome, kyphoscoliotic and deafness type, sourced from HPO and Orphanet clinical annotations.
Sensorineural hearing impairmentHyperextensible skinMotor delayJoint hypermobilityPes planusPoor head controlKyphoscoliosisMyopathySkeletal muscle atrophySevere muscular hypotoniaFollicular hyperkeratosisMyopiaOsteopeniaBruising susceptibilityAtrophic scarsMuscle weaknessElevated circulating creatine kinase concentrationEasy fatigabilityHerniaAbnormal eye morphologyArterial ruptureMicrocorneaDisproportionate tall stature
Classification & Codes
Orphanet Code
ORPHA:300179Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
| Orphanet | ORPHA:300179 |
| Treatments | 0 drug(s) |
| Symptoms on record | 23 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO