X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome
ORPHA: 480907
Overview
human disease
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 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome, sourced from HPO and Orphanet clinical annotations.
Low-set earsProtruding earDelayed speech and language developmentIntellectual disabilityGlobal developmental delayGeneralized hypotoniaAbnormal facial shapeHypoplasia of the corpus callosumDelayed gross motor developmentSevere expressive language delayAbnormal sacral segmentationProminent protruding coccyxPostnatal growth retardationHigh palateLong facePointed chinProminent supraorbital ridgesLong philtrumHearing impairmentChronic otitis mediaAnteverted naresStrabismusDownslanted palpebral fissuresAutistic behaviorJoint hypermobilityModerate intellectual disabilityOral-pharyngeal dysphagiaThin upper lip vermilionMicrocephalyEpicanthusMicrognathiaBulbous noseBroad nasal tipDeeply set eyeLong eyelashesThick eyebrowSynophrysSeizureSpastic diplegiaDystoniaTremorObesityLower limb hyperreflexiaDepressed nasal bridgeLipoma
Classification & Codes
Orphanet Code
ORPHA:480907X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome
| Orphanet | ORPHA:480907 |
| Treatments | 0 drug(s) |
| Symptoms on record | 45 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO