Chromosome 11p deletion syndrome. 11p minus syndrome. Monosomy 11p. Oculocerebrorenal (OCR) sÃndrome. Brusa-Toricelli syndrome. Miller syndrome. Wilms tumor-aniridia syndrome.
Incidence
Very rare syndrome. Sporadic.
Clinical Characteristics
Deletion of the short arm of chromosome 11 with a variable phenotype: Congenital absence of the iris, genitourinary abnormalities and mental retardation known as aniridia-ambiguous genitalia-mental retardation (AGR) triad; Wilms tumor-aniridia-ambiguous genitalia-mental retardation (WAGR) syndrome; Wilms tumor associated with congenital absence of the iris, genitourinary abnormalities, hemihypertrophy, mental retardation, and other anomalies termed AWTA. Phenotypic variability is related to the breakpoint 11p13--the most common deletion, is associated with aniridia and Wilms tumor are the main features, frequently in association with glaucoma, corneal opacity, optic atrophy, nystagmus, and blepharophimosis. gonadoblastoma, gonadal dysgenesis, and pseudohermaphroditism occur in some cases. Mental and growth retardation are frequent. 11p11.2p12--mental retardation, biparietal foramina, large fontanels, brachycephaly, strabismus, short philtrum, downturned palpebral fissures, micropenis, cryptorchidism, and multiple exostoses are the main characteristics. It is a rare syndrome involving the EXT2 locus, a gene for parietal foramina and mental retardation locus. 11p12.p11--minor dysmorphic features without aniridia and an Wilms tumor. Deletion of the proximal portion of the chromosome 11 share many common manifestations, including mental retardation, biparietal foramina, minor facial anomalies, and multiple cartilaginous dysostoses.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
When aniridia is diagnosed in a child, a genetic study including caryotype and family history must quickly determine whether the disorder is inherited or not. When the deletion in 11p13 is demonstrated, annual sonograms are an absolute requirement.