Potocki-Luspski syndrome
MeSH: C536578ORPHA: 1713
Overview
chromosomal duplication syndrome characterized by hypotonia, failure to thrive, mental retardation, pervasive developmental disorders and congenital anomalies that has material basis in duplication of a region of chromosome 17p11.2
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 Potocki-Luspski syndrome, sourced from HPO and Orphanet clinical annotations.
Posteriorly rotated earsAbnormality of the pharynxAutismHypotoniaMild intellectual disabilityDysarthriaGlobal developmental delayFailure to thriveAphasiaExpressive language delayAbnormality of chromosome segregationAttention deficit hyperactivity disorderEcholaliaSleep apneaTriangular faceBroad foreheadMicrognathiaDownslanted palpebral fissuresAnxietyGastroesophageal refluxEEG abnormalityScoliosisPoor fine motor coordinationHigh hypermetropiaSpeech apraxiaAbnormal cardiovascular system morphologyOral-pharyngeal dysphagiaWide mouthMicrocephalyHypertelorismHearing impairmentHypoplasia of the corpus callosumShort statureAbnormal dental morphologyOpen bite
Classification & Codes
MeSH Code
C536578Orphanet Code
ORPHA:1713Potocki-Luspski syndrome
| MeSH | C536578 |
| Orphanet | ORPHA:1713 |
| Treatments | 0 drug(s) |
| Symptoms on record | 35 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO