global developmental delay-osteopenia-ectodermal defect syndrome
ORPHA: 73223
Overview
This syndrome is characterised by the association of global developmental delay, osteopenia and skin 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 global developmental delay-osteopenia-ectodermal defect syndrome, sourced from HPO and Orphanet clinical annotations.
Joint hypermobilityAtypical behaviorAggressive behaviorShort attention spanOsteopeniaThickened skinHypocalciuriaAttention deficit hyperactivity disorderHypoplastic sweat glandsDepigmentation/hyperpigmentation of skinAbnormality of hair textureAbnormality of dermal melanosomesEpidermal thickeningOrthokeratotic hyperkeratosisAbnormal temper tantrumsImpulsivityDelayed speech and language developmentEEG abnormalityThin vermilion borderEpicanthusBroad foreheadLong philtrumMicrognathiaWide nasal bridgeThick eyebrowSynophrysDental malocclusionMaxillary lateral incisor microdontiaMitral regurgitationHyperlordosisScapular wingingTricuspid regurgitationConical incisorLocalized hypoplasia of dental enamelProminent foreheadHypophosphaturiaDilation of Virchow-Robin spacesClinodactyly of the 2nd fingerClinodactyly of the 4th finger
Classification & Codes
Orphanet Code
ORPHA:73223global developmental delay-osteopenia-ectodermal defect syndrome
| Orphanet | ORPHA:73223 |
| Treatments | 0 drug(s) |
| Symptoms on record | 39 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO