microcephaly-seizures-intellectual disability-heart disease syndrome
MeSH: C537544ORPHA: 2519
Overview
Microcephaly-seizures-intellectual disability-heart disease syndrome is characterised by intellectual deficit, a cardiac anomaly, micropenis, hypothyroidism, epileptic seizures, and skeletal anomalies. It has been described in two males.
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 microcephaly-seizures-intellectual disability-heart disease syndrome, sourced from HPO and Orphanet clinical annotations.
MicropenisCongenital hypothyroidismIntellectual disabilitySeizureGlobal developmental delayAtrial septal defectCongenital nystagmusFloppy infantCryptorchidismMicrocephalyEpicanthusEsotropiaAbnormal sternum morphologyAbnormal rib morphologyShort ribsBroad ribsPostaxial hand polydactylyVentricular septal defectPatent ductus arteriosusHypoplasia of the corpus callosumPulmonary arterial hypertensionRespiratory distressSupernumerary nippleRedundant neck skin
Classification & Codes
MeSH Code
C537544Orphanet Code
ORPHA:2519microcephaly-seizures-intellectual disability-heart disease syndrome
| MeSH | C537544 |
| Orphanet | ORPHA:2519 |
| Treatments | 0 drug(s) |
| Symptoms on record | 24 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO