aniridia-absent patella syndrome
Findings
No curated finding names aniridia-absent patella syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Aniridia-absent patella is a syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975.
Definition from the Mondo Disease Ontology (MONDO:0007120), read 2026-09-29. CC BY 4.0.
Features
8 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.
- AniridiaHPOHP:0000526
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the patellaHPOHP:0006498
- Very frequent (80% to 99% of cases)
- CataractHPOHP:0000518
- Frequent (30% to 79% of cases)
- CryptorchidismHPOHP:0000028
- Frequent (30% to 79% of cases)
- GlaucomaHPOHP:0000501
- Frequent (30% to 79% of cases)
- HypotoniaHPOHP:0001252
- Frequent (30% to 79% of cases)
- Inguinal herniaHPO
Where it sits
- A kind of