Microcephaly - lymphedema - chorioretinopathy is a rare genetic condition. This condition results from a mutation or error in a person’s DNA or genes. The main birth defects present included microcephaly (small head size), eye problems (chorioretinopathy), swelling of the lower legs (lymphedema) and mild to moderate intellectual disability. The severity of features may be variable even in the same family. Characteristic facial features are also present and may include upslanted eyes, broad nose with rounded tip, upturned nostrils and thin upper lip with prominent ears and chin. Multiple disorders of the eye can be present and may include degeneration of the choroid (back lining of the eye), small eyes, retinal folds which are circular folds or patterns on the retina (the part of the eye that receives light and sends signals to the brain), and astigmatism (irregular curvature of the cornea or the front part of the eye). Lymphedema when present is typically noted at birth. The swelling may affect both sides (bilateral), and is usually limited to the feet. Epilepsy (seizure disorder) and congenital heart defects may be rare findings in this disorder. Although there is currently no cure for microcephaly - lymphedema - chorioretinopathy, there are various resources to help manage the condition and treat birth defects. Doctors seek help from various therapists and community services to provide support and care for families affected by microcephaly - lymphedema - chorioretinopathy
Microcephaly - lymphedema - chorioretinopathy is inherited in an autosomal dominant pattern. This means that the individual only needs to have one copy of the changed gene that causes this disorder in order to have symptoms. As symptoms are variable among affected individuals, a full physical exam and family history discussion is important. Genetic counseling is useful for a better understanding of recurrence risks in additional family members.