/chromosome 18q deletion syndrome

chromosome 18q deletion syndrome

Rare Disease

MONDO:0011147

Also Known As

18Q syndrome18q deletion syndrome18q-syndromeChromosome 18q- Syndromechromosome 18q deletion syndromedeletion 18qdeletion 18q syndromemonosomy 18qmonosomy type 18qpartial deletion of chromosome 18qpartial deletion of the long arm of chromosome 18partial deletion of the long arm of chromosome type 18partial monosomy of chromosome 18qpartial monosomy of the long arm of chromosome 18proximal 18q deletionproximal 18q deletion syndromeproximal 18q-proximal chromosome 18q deletion syndrome18Q- syndromechromosome 18Q- syndromechromosome 18q deletionmonosomy 18q syndrome

Definition

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.