Skraban-Deardorff syndrome
ORPHA: 513456
Overview
Other congenital malformations
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 Skraban-Deardorff syndrome, sourced from HPO and Orphanet clinical annotations.
Full cheeksWidely spaced teethDelayed speech and language developmentIntellectual disabilitySeizureEverted upper lip vermilionHyperplasia of the maxillaAbnormality of the gingivaCoarse facial featuresMicrognathiaAnteverted naresHypotoniaFailure to thriveBilateral tonic-clonic seizureGeneralized non-motor (absence) seizureProminent nasal tipDepressed nasal bridgeSparse lateral eyebrowIncreased axial length of the globeFeeding difficulties in infancyAbsent cupid's bowMild global developmental delaySevere global developmental delayDelayed ability to sitDelayed ability to walkBrain imaging abnormalityCleft palateMicrocephalyRecurrent otitis mediaStrabismusHypermetropiaMyopiaAmblyopiaAutistic behaviorMotor stereotypyPachygyriaCerebellar hypoplasiaAbsent speechHip dysplasiaVentricular septal defectPes cavusMetatarsus adductusConstipationGastroesophageal refluxGait ataxiaHypoplasia of the corpus callosumVentriculomegalyBroad-based gaitFebrile seizure (within the age range of 3 months to 6 years)TracheomalaciaLower-limb joint contractureCerebral hypomyelinationAbducens palsyRepetitive compulsive behaviorOsteopathia striataGastrostomy tube feeding in infancyAbnormal skeletal morphologyRight aortic archStereotypical body rockingPineal cystMarcus Gunn jaw winking synkinesisAbnormal Eustachian tube morphology
Classification & Codes
Orphanet Code
ORPHA:513456Skraban-Deardorff syndrome
| Orphanet | ORPHA:513456 |
| Treatments | 0 drug(s) |
| Symptoms on record | 62 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO