Aniridia-renal agenesis-psychomotor retardation syndrome

Orpha code: 1064OMIM code: 206750

Definition

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
Classification

Malformation syndrome

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

No additional description.

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