intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome
ORPHA: 457365
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 intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome, sourced from HPO and Orphanet clinical annotations.
Narrow mouthNarrow palateProminent nasal bridgeDeeply set eyeDownslanted palpebral fissuresCarious teethDelayed speech and language developmentIntellectual disabilityMuscle weaknessSpecific learning disabilityPes planusOverlapping toeLeukoencephalopathyHighly arched eyebrowDelayed skeletal maturationEMG: myopathic abnormalitiesShort statureBroad columellaThick lower lip vermilionShort chinPtosisBlue scleraeOphthalmoplegiaTremor
Classification & Codes
Orphanet Code
ORPHA:457365intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome
| Orphanet | ORPHA:457365 |
| Treatments | 0 drug(s) |
| Symptoms on record | 24 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO