Aniridia absent patella
Synonyms
1
Overview
A rare genetic condition characterized by an abnormal or missing kneecap as well as the absence of the iris of the eye.
Symptoms
- Absence of iris
- Absent kneecap
- Abnormal kneecap
- Cataract
- Glaucoma
- Enlarged infant eyeball
- Hypotonia
- Inguinal hernia
- Ptosis
- Undescended testes
- Ectopic testes
- Aplasia/Hypoplasia of the iris
- Patellar aplasia
Resources
- NIH