Conditions / Syndrome
multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly
info · Syndrome
A syndrome that is characterized by severe hydranencephaly with almost complete absence of the cerebral hemispheres, which are replaced by fluid, relative preservation of the posterior fossa structures, and renal dysplasia or agenesis and has_material_basis_in
A syndrome that is characterized by severe hydranencephaly with almost complete absence of the cerebral hemispheres, which are replaced by fluid, relative preservation of the posterior fossa structures, and renal dysplasia or agenesis and has_material_basis_in autosomal recessive homozygous mutation in the CEP55 gene on chromosome 10q23.
Signs and symptoms
- Pulmonary hypoplasia
- Brachydactyly
- Cutaneous syndactyly
- Multinucleated neuron
- Single transverse palmar crease
- Redundant neck skin
- Cystic hygroma
- Renal dysplasia
- Oligohydramnios
- Talipes equinovarus
Also known as: MARCH