White-Sutton syndrome

ORPHA: 4686781 Treatment Available

Contents

1. Overview
2. Available Treatments
3. Clinical Presentation
4. Classification & Codes

Overview

autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of POGZ on chromosome 1q21.3

Available Treatments (1)

Drug	Form	Status	Countries	Lead Time
Growth Hormone Cold Chain	Subcutaneous injection, 5mg, 12mg cartridges	FDA Approved	11	10d

Clinical Presentation

Signs and symptoms associated with White-Sutton syndrome, sourced from HPO and Orphanet clinical annotations.

Downturned corners of mouthObstructive sleep apneaVentral herniaDepressed nasal bridgeHypoplasia of the ponsSubcortical cerebral atrophyDelayed myelinationSelf-injurious behaviorIntellectual disabilityGlobal developmental delayMicrocephalyHypertelorismVisual impairmentHypermetropiaAutistic behaviorDelayed speech and language developmentHyperactivityMild intellectual disabilityObesityAbnormal facial shapeSleep disturbanceShort statureSevere expressive language delayFeeding difficulties in infancyFloppy infantAbnormality of the gastrointestinal tractFeeding difficultiesNarrow mouthOpen mouthThin upper lip vermilionBrachycephalyPointed chinAbnormality of the outer earSensorineural hearing impairmentAstigmatismStrabismusRod-cone dystrophyMyopiaAggressive behaviorMotor stereotypySeizureAbsent speechGastroesophageal refluxEEG abnormalitySevere intellectual disabilityMidface retrusionChronic constipationInguinal herniaDuplicated collecting systemHigh palateMalar flatteningFacial hypotoniaShort philtrumPosteriorly rotated earsBroad nasal tipShort neckIris colobomaBlindnessOptic atrophyCompulsive behaviorsCongenital diaphragmatic herniaVitiligoCerebellar atrophyJoint hypermobilityAbnormal heart morphologyHypoplasia of the corpus callosumCerebral cortical atrophyDelayed CNS myelinationEnlarged cisterna magnaIncoordinationFebrile seizure (within the age range of 3 months to 6 years)Focal impaired awareness seizure

Classification & Codes

Orphanet Code

ORPHA:468678

White-Sutton syndrome

Orphanet	`ORPHA:468678`
Treatments	1 drug(s)
Symptoms on record	72 signs
Status	published

Treatment Summary

Growth Hormone

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO