Aniridia-absent patella syndrome

Orpha code: 1069OMIM code: 106220

Definicja

A rare 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.

Disease data
Klasyfikacja

Malformation syndrome

Kod ORPHA
1069
Kod OMIM
106220
Kod ICD10
Q87.8
Kod ICD11
-

No additional description.

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