microcephalic primordial dwarfism, Toriello type
MeSH: C537321ORPHA: 2643
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 microcephalic primordial dwarfism, Toriello type, sourced from HPO and Orphanet clinical annotations.
MicrocephalyDownslanted palpebral fissuresCataractAbnormal rib morphologyBrachydactylyIntellectual disabilityHypotoniaIntrauterine growth retardationDecreased total neutrophil countVentriculomegalyRecurrent respiratory infectionsDownturned corners of mouthDelayed skeletal maturationDecreased circulating total IgMSevere short statureDecreased circulating IgG concentrationAbnormal epiphysis morphologyEnamel hypoplasia
Classification & Codes
MeSH Code
C537321Orphanet Code
ORPHA:2643microcephalic primordial dwarfism, Toriello type
| MeSH | C537321 |
| Orphanet | ORPHA:2643 |
| Treatments | 0 drug(s) |
| Symptoms on record | 18 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO