Conditions / Syndrome
lethal congenital contracture syndrome 10
info · Syndrome
A lethal congenital contracture syndrome characterized by fetal akinesia, multiple contractures, shortening of upper and lower limbs, and narrow chest and thorax that has_material_basis_in homozygous mutation in the NEK9 gene on chromosome 14q24.
Signs and symptoms
- Pulmonary hypoplasia
- Short long bone
- Talipes equinovarus
- Short neck
- Long philtrum
- Micrognathia
- Ventricular septal defect
- Hypoplasia of the thymus
- Narrow chest
- Adducted thumb