Schuurs-Hoeijmakers Syndrome
ORPHA: 329224
Overview
autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of PACS1 on chromosome 11q13.1-q13.2
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 Schuurs-Hoeijmakers Syndrome, sourced from HPO and Orphanet clinical annotations.
Delayed speech and language developmentIntellectual disabilityGlobal developmental delayAbnormal facial shapeCryptorchidismHypertelorismLow-set earsProtruding earBulbous noseDownslanted palpebral fissuresLong eyelashesSeizureBilateral ptosisFailure to thriveConstipationHighly arched eyebrowFloppy infantAbnormal brain morphologyOral aversionAbnormal temper tantrumsInguinal herniaWide mouthThin upper lip vermilionMicrocephalyLow anterior hairlineSmooth philtrumMacrotiaColobomaSynophrysDiastemaAutistic behaviorPectus excavatumSingle transverse palmar creaseSingle umbilical arterySlender fingerDysarthriaCerebellar atrophyCerebellar hypoplasiaAbsent speechUmbilical herniaVentricular septal defectAtrial septal defectPatent ductus arteriosusBicuspid aortic valvePatent foramen ovalePes planusGastroesophageal refluxUnsteady gaitCavum septum pellucidumScoliosisDownturned corners of mouthPartial absence of cerebellar vermisClinodactyly of the 5th fingerDecreased circulating complement C3 concentrationWide intermamillary distanceFocal emotional seizure with laughingBroad thumbAbnormal renal morphologyNasogastric tube feeding
Classification & Codes
Orphanet Code
ORPHA:329224Schuurs-Hoeijmakers Syndrome
| Orphanet | ORPHA:329224 |
| Treatments | 0 drug(s) |
| Symptoms on record | 59 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO