16p13.11 microdeletion syndrome
ORPHA: 261236
Overview
16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems.
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 16p13.11 microdeletion syndrome, sourced from HPO and Orphanet clinical annotations.
CryptorchidismWide mouthCleft palateCleft upper lipThin upper lip vermilionMicrocephalySmooth philtrumLow-set earsPreauricular skin tagSensorineural hearing impairmentAtresia of the external auditory canalAnteverted naresDownslanted palpebral fissuresCompulsive behaviorsDelayed speech and language developmentPectus excavatumGlobal developmental delayAgenesis of corpus callosumHypertoniaSpecific learning disabilityHoloprosencephalyVentricular septal defectAtrial septal defectTalipes equinovarusGastroesophageal refluxVentriculomegalyGeneralized-onset seizureExaggerated cupid's bowAbnormality of neuronal migrationEEG abnormalityShort noseShort statureDepressed nasal bridgeCyclopiaMetatarsus valgusSevere intellectual disabilityFeeding difficultiesCamptodactyly of fingerSelf-injurious behaviorSchizophrenia
Classification & Codes
Orphanet Code
ORPHA:26123616p13.11 microdeletion syndrome
| Orphanet | ORPHA:261236 |
| Treatments | 0 drug(s) |
| Symptoms on record | 40 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO