recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome
ORPHA: 280384
Overview
human disease
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 recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome, sourced from HPO and Orphanet clinical annotations.
Absent speechDevelopmental regressionLimb joint contractureSevere intellectual disabilityWide mouthMacroglossiaFebrile seizure (within the age range of 3 months to 6 years)Elbow flexion contractureKnee flexion contractureAnkle flexion contractureHigh palateShort philtrumAbnormal pinna morphologyThick eyebrowSynophrysDysphagiaHand tremorUpper limb hyperreflexiaAnkle clonusAbnormal lumbar spine morphology
Classification & Codes
Orphanet Code
ORPHA:280384recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome
| Orphanet | ORPHA:280384 |
| Treatments | 0 drug(s) |
| Symptoms on record | 20 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO