pseudoprogeria syndrome
MONDO:0008694Mondo
Findings
No curated finding names pseudoprogeria syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Pseudoprogeria is characterized 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.
Definition from the Mondo Disease Ontology (MONDO:0008694), read 2026-09-29. CC BY 4.0.
Features
20 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Absent eyebrowHPOHP:0002223
- Obligate (100% of cases)
- Absent eyelashesHPOHP:0000561
- Obligate (100% of cases)
- Intellectual disabilityHPOHP:0001249
- Obligate (100% of cases)
- AlopeciaHPOHP:0001596
- Very frequent (80% to 99% of cases)
- Bird-like faciesHPOHP:0000320
- Very frequent (80% to 99% of cases)
- Convex nasal ridgeHPOHP:0000444
- Very frequent (80% to 99% of cases)
- Cranium bifidum occultumHPOHP:0004423
- Very frequent (80% to 99% of cases)
- Decreased body weightHPOHP:0004325
- Very frequent (80% to 99% of cases)
- Failure to thriveHPOHP:0001508
- Very frequent (80% to 99% of cases)
- GlaucomaHPOHP:0000501
- Very frequent (80% to 99% of cases)
- Growth delayHPOHP:0001510
- Very frequent (80% to 99% of cases)
- Joint stiffnessHPOHP:0001387
- Very frequent (80% to 99% of cases)
Show the remaining 8
- MicrocephalyHPOHP:0000252
- Very frequent (80% to 99% of cases)
- Narrow nasal tipHPOHP:0011832
- Very frequent (80% to 99% of cases)
- Progressive spastic quadriplegiaHPOHP:0002478
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Sparse eyebrowHPOHP:0045075
- Very frequent (80% to 99% of cases)
- Sparse hairHPOHP:0008070
- Very frequent (80% to 99% of cases)
Where it sits
Other names
3 names
Resolves to: pseudoprogeria syndrome
- Also called
- absent eyebrows and eyelashes-intellectual disability syndromeeyebrows and eyelashes absence-intellectual disability syndromeHal-Berg-Rudolph syndrome