Aniridia-renal agenesis-psychomotor retardation syndrome

Orpha code: 1064OMIM code: 206750

Definicja

An extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Sommer-Rathbun-Battles syndrome
Zespół Sommera, Rathbuna i Battlesa
Kod ORPHA
1064
Kod OMIM
206750
Kod ICD10
Q87.8
Kod ICD11
-

No additional description.

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