Conditions / Syndrome
mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition
info · Syndrome
A mosaic variegated aneuploidy syndrome that is characterized by increased susceptibility to benign and malignant neoplasms beginning in early childhood that has_material_basis_in compound heterozygous mutation in the MAD1L1 gene on chromosome 7p22.
Signs and symptoms
- Narrow forehead
- Nevus
- Microcephaly
- Pilomatrixoma
- Pes cavus
- Deeply set eye
- Cervix cancer
- Global developmental delay
- Midface retrusion
- Nystagmus