6q16 deletion syndrome
ORPHA: 171829
Overview
Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay
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 6q16 deletion syndrome, sourced from HPO and Orphanet clinical annotations.
Delayed speech and language developmentGlobal developmental delayObesityAbnormal facial shapeMacrocephalyFull cheeksNarrow foreheadStrabismusUpslanted palpebral fissureNeonatal hypotoniaSpecific learning disabilityPoor suckPolyphagiaAlmond-shaped palpebral fissureAbnormal temper tantrumsRetrognathiaBroad foreheadMicrognathiaLow-set earsBulbous noseAnteverted naresAbnormality of the eyeThick eyebrowAutistic behaviorAbnormal thorax morphologyTapered fingerLong footBroad-based gaitIncoordinationDepressed nasal bridgeMicrotiaAbnormal ear morphology
Classification & Codes
Orphanet Code
ORPHA:1718296q16 deletion syndrome
| Orphanet | ORPHA:171829 |
| Treatments | 0 drug(s) |
| Symptoms on record | 32 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO