Conditions / Syndrome
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
info · Syndrome
A syndrome characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.
Signs and symptoms
- Mild intellectual disability
- Lymphedema
- Epicanthus
- Corneal opacity
- Sloping forehead
- Long philtrum
- Retinal detachment
- Anteverted nares
- Deep philtrum
- Microcornea
Also known as: chorioretinal dysplasia-microcephaly-mental retardation syndrome; lymphedema and retinal folds with ficrocephaly and microphthalmos; lymphedema, microcephaly and chorioretinopathy syndrome; microcephaly lymphedema chorioretinal dysplasia; microcephaly, lymphedema, chorioretinal dysplasia syndrome