2p15-16.1 microdeletion syndrome
MeSH: C567289ORPHA: 261349
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 2p15-16.1 microdeletion syndrome, sourced from HPO and Orphanet clinical annotations.
Wide nasal bridgeDownslanted palpebral fissuresTelecanthusPtosisBlepharophimosisOptic nerve hypoplasiaOptic atrophyDelayed speech and language developmentGlobal developmental delayModerate intellectual disabilityHydronephrosisBrachycephalyRetrognathiaSloping foreheadNarrow foreheadLow-set earsProtruding earNarrow mouthHigh palateEverted lower lip vermilionMicrocephalyEpicanthusSmooth philtrumLong philtrumProminent nasal bridgeStrabismusVisual impairmentLong eyelashesAutismAutistic behaviorTapered fingerHypotoniaGeneralized hypotoniaFailure to thriveGrowth delayIntrauterine growth retardationMetatarsus adductusLower limb spasticityRecurrent respiratory infectionsProminent nasal tipWide intermamillary distanceAttention deficit hyperactivity disorderCamptodactyly of fingerMulticystic kidney dysplasiaInguinal herniaTall statureHypogonadismHigh foreheadHearing impairmentPectus excavatumGynecomastiaDysarthriaGait disturbanceCerebellar hypoplasiaPolyhydramniosLaryngomalaciaHypernasal speechMitral regurgitationAortic regurgitationPes planusSandal gapToe clinodactylyDysphagiaVentriculomegalyFine hairEEG abnormalitySupernumerary nippleScoliosisKyphosisPatellar dislocationProminent metopic ridgeBilateral single transverse palmar creasesDecreased testicular sizeFacial palsyFeeding difficultiesSparse eyebrowEnlarged thorax
Classification & Codes
MeSH Code
C567289Orphanet Code
ORPHA:2613492p15-16.1 microdeletion syndrome
| MeSH | C567289 |
| Orphanet | ORPHA:261349 |
| Treatments | 0 drug(s) |
| Symptoms on record | 77 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO