ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome
MeSH: C565605ORPHA: 1812
Available Treatments (0)
No treatments linked yet
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Clinical Presentation
Signs and symptoms associated with ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome, sourced from HPO and Orphanet clinical annotations.
Inguinal herniaCryptorchidismCleft palateHydrocephalusMacrocephalyRetrognathiaEpicanthusHypertelorismLow-set earsDeeply set eyeAbnormal eyelid morphologyDownslanted palpebral fissuresAbnormal dental enamel morphologyMicrodontiaPectus excavatumHypothyroidismDry skinThin skinHypohidrosisHypotoniaAgenesis of corpus callosumGait disturbancePolyhydramniosSandal gapFrontal bossingVentriculomegalyFine hairSupernumerary nippleAbnormal fibula morphologyShort noseDepressed nasal bridgeAplasia/Hypoplasia of the cerebellumHypoplasia of penisFeeding difficulties in infancyAplastic/hypoplastic toenailHypoplasia of the zygomatic boneSevere intellectual disabilityAbnormality of immune system physiologyAplasia/Hypoplasia of the eyebrow
Classification & Codes
MeSH Code
C565605Orphanet Code
ORPHA:1812ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome
| MeSH | C565605 |
| Orphanet | ORPHA:1812 |
| Treatments | 0 drug(s) |
| Symptoms on record | 39 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO