Xia-Gibbs Syndrome
ORPHA: 4120693 Treatments Available
Overview
autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of AHDC1 on chromosome 1p36.1-p35.3
Available Treatments (3)
| Drug | Form | Status | Countries | Lead Time |
|---|---|---|---|---|
| Growth hormone (somatropin) Orphan Cold Chain | Subcutaneous injection, 5mg, 12mg cartridges | FDA Approved | 8 | 14d |
| Multivitamin with Calcium and Vitamin D | Oral tablets, chewable tablets, liquid suspension | OTC - Multiple jurisdictions | 9 | 1d |
| Levetiracetam | Oral tablet 250mg, 500mg, 750mg, 1000mg; Oral solution 100mg/mL; IV infusion 500mg/5mL | FDA Approved, EMA Approved | 11 | 3d |
Clinical Presentation
Signs and symptoms associated with Xia-Gibbs Syndrome, sourced from HPO and Orphanet clinical annotations.
Delayed speech and language developmentIntellectual disabilityHypotoniaGlobal developmental delayMotor delayStrabismusAbnormality of the vertebral columnSeizureAtaxiaAbnormal corpus callosum morphologyJoint hypermobilityFailure to thriveAbnormal facial shapeExpressive language delayUpper airway obstructionObstructive sleep apneaUpbeat nystagmusFeeding difficultiesAbnormal brain morphologyDelayed ability to walkHypertelorismMicrognathiaHearing impairmentLow-set earsSmall earlobeProtruding earDeeply set eyeDownslanted palpebral fissuresEsotropiaUpslanted palpebral fissureAutismCraniosynostosisLaryngomalaciaHypoplasia of the corpus callosumEEG abnormalityScoliosisTracheomalaciaRespiratory failure requiring assisted ventilationDepressed nasal bridgeRetrocerebellar cystUplifted earlobeDelayed myelinationSnoringMild myopiaCerebral visual impairment
Classification & Codes
Orphanet Code
ORPHA:412069Xia-Gibbs Syndrome
| Orphanet | ORPHA:412069 |
| Treatments | 3 drug(s) |
| Symptoms on record | 45 signs |
| Status | published |
Treatment Summary
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO