2q31.1 microdeletion syndrome
ORPHA: 251014
Overview
2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects.
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 2q31.1 microdeletion syndrome, sourced from HPO and Orphanet clinical annotations.
Intellectual disabilityGlobal developmental delayMicrocephalyLong philtrumMicrognathiaLow-set earsBulbous noseShort neckDownslanted palpebral fissuresBrachydactylyTapered fingerSeizureHypotoniaAbnormal hair morphologyToe syndactylyHypoplastic toenailsSandal gapDeep philtrumLanguage impairmentDownturned corners of mouthDelayed skeletal maturationVertebral segmentation defectClinodactyly of the 5th fingerShort statureProminent metopic ridgeAbnormal metacarpal morphologyBroad hallux phalanxShort palpebral fissureCamptodactyly of fingerInguinal herniaCryptorchidismCleft palateEverted lower lip vermilionThin vermilion borderTrigonocephalyNarrow faceCoarse facial featuresEpicanthusLow anterior hairlineHypertelorismFacial asymmetryStrabismusPtosisProptosisMicrophthalmiaOptic disc colobomaColobomaIris colobomaSynophrysAbnormality of the hypothalamus-pituitary axisVentricular septal defectAtrial septal defectShort footVentriculomegalyCerebral cortical atrophyScoliosisKyphosisAbnormal fibula morphologyAbnormal tibia morphologyShort palmFinger syndactylyAbnormal morphology of ulnaEctrodactyly
Classification & Codes
Orphanet Code
ORPHA:2510142q31.1 microdeletion syndrome
| Orphanet | ORPHA:251014 |
| Treatments | 0 drug(s) |
| Symptoms on record | 63 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO