Signs such as aniridia (complete or partial absence of iris) are typically noticed shortly after birth. In infant boys, genital and urinary anomalies are typically apparent within the newborn period. Sexual assignment may be challenging in some patients, due to possible genital development abnormalities present at birth. Other manifestations become apparent as the child grows older.
Ocular conditions that may develop include cataract, nystagmus, and glaucoma. Boys may present with hypospadias or cryptorchidism. Girls may present with underdeveloped ovaries or malformed uterus, fallopian tubes, or vagina. Intellectual disability and developmental delay are common, although severity is variable; some patients will have normal intelligence. Other symptoms may include behavioral, and/or psychiatric disorders, early-onset obesity, polyphagia, hyperphagia, chronic kidney failure (usually after age 12), sleep apnea, frequent ear, nose, and throat infections, epilepsy, and pancreatitis. Patients may have an increased risk of gonadoblastoma, a genitourinary cancer affecting the testes or ovaries.
Treatment is targeted at managing specific symptoms. Regular checkups are essential for continuous monitoring and timely interventions.
For more information, see OMIM.
Q87.89 – Other specified congenital malformation syndromes, not elsewhere classified
4135001 – 11p partial monosomy syndrome