Chromosome 18q deletion syndrome

A condition in which some or all of the cells of the body contain extra genetic material from chromosome 18. Clinical features of this condition may include the following: spina bifida, hearing loss, cleft lip, cleft palate, undescended testes, rocker bottom feet, micrognathia, low set ears, cardiac anomalies (ventricular septal defect, atrial septal defect, patent ductus arteriosus, tetralogy of Fallot), intellectual disability, holoprosencephaly, pituitary dysplasia, seizures, autoimmune disorders, hip dysplasia, and/or congenital cataracts.

Also known as: 18Q syndrome, 18q deletion syndrome, 18q-syndrome, Chromosome 18q- Syndrome, chromosome 18q deletion syndrome, deletion 18q, deletion 18q syndrome, monosomy type 18q

3 clinical trials for this condition and its sub-types.