Schinzel–Giedion syndrome
MeSH: C536632ORPHA: 798
Overview
Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies
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 Schinzel–Giedion syndrome, sourced from HPO and Orphanet clinical annotations.
Broad foreheadBroad nasal tipFrontal bossingShort noseMidface retrusionProfound global developmental delayNeurodevelopmental delayAbnormality of the genital systemHydronephrosisWide mouthMacroglossiaWide anterior fontanelHypertelorismFacial hemangiomaNarrow foreheadAbnormality of the outer earLow-set earsShort neckVisual impairmentProptosisShallow orbitsBroad ribsSeizureFailure to thrive in infancyAbnormal heart morphologyHypoplasia of the corpus callosumVentriculomegalyGeneralized hypertrichosisShort distal phalanx of fingerAbnormal helix morphologyAbnormality of the gingivaBroad alveolar ridgesHigh palateRetrognathiaMicrognathiaAbnormal cochlea morphologyChoanal stenosisAlacrimaDelayed eruption of teethAbnormal thorax morphologyAbnormal clavicle morphologyUmbilical herniaAnteriorly placed anusAnnular pancreasOverlapping toePulmonary hypoplasiaRespiratory distressCerebral cortical atrophyChoroid plexus cystAganglionic megacolonWormian bonesSclerosis of skull baseKyphoscoliosisTibial bowingHypoplastic pubic boneChiari type I malformationInfantile sensorineural hearing impairmentAbnormal stapes morphologyTeratomaShort 1st metacarpalStreak ovaryOverlapping fingersNeural tube defectInguinal herniaHypospadiasMicropenisAbnormality of the ureterRenal cystCoarse facial featuresShort philtrumNephrolithiasisSpasticityHypertoniaLaryngomalaciaVocal cord paralysisDysphagiaHypsarrhythmiaScoliosisNephroblastomaHepatoblastomaEpendymomaRadioulnar synostosisHypoplasia of the epiglottisRecurrent pneumoniaLarge earlobeEpileptic spasmGastrostomy tube feeding in infancyCentral hypothyroidismMyeloid leukemiaCamptodactylyStiff elbowSacrococcygeal teratoma
Classification & Codes
MeSH Code
C536632Orphanet Code
ORPHA:798Schinzel–Giedion syndrome
| MeSH | C536632 |
| Orphanet | ORPHA:798 |
| Treatments | 0 drug(s) |
| Symptoms on record | 92 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO