Pseudoprogeria syndrome
MeSH: C563111ORPHA: 2985
Overview
Pseudoprogeria is characterised by intellectual deficit associated with progressive spastic quadriplegia, microcephaly, glaucoma, absence of the eyebrows and eyelashes, and a malformation of the nose. It has been described in two brothers.
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 Pseudoprogeria syndrome, sourced from HPO and Orphanet clinical annotations.
Absent eyelashesIntellectual disabilityAbsent eyebrowMicrocephalyBird-like faciesConvex nasal ridgeGlaucomaThin skinJoint stiffnessFailure to thriveGrowth delayAlopeciaProgressive spastic quadriplegiaShort statureDecreased body weightCranium bifidum occultumSparse hairSpinal arachnoid cystNarrow nasal tipSparse eyebrow
Classification & Codes
MeSH Code
C563111Orphanet Code
ORPHA:2985Pseudoprogeria syndrome
| MeSH | C563111 |
| Orphanet | ORPHA:2985 |
| Treatments | 0 drug(s) |
| Symptoms on record | 20 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO