Conditions / Syndrome
Meckel syndrome 1
info · Syndrome · ICD-10: Q61.9
A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the MKS1 gene on chromosome 17q22.
Signs and symptoms
- Camptodactyly of finger
- Hypotonia
- Smooth philtrum
- Molar tooth sign on MRI
- Delayed ability to sit
- Polycystic kidney dysplasia
- Rotary nystagmus
- Absent speech
- Dilated fourth ventricle
- Global developmental delay
Also known as: MKS1; Meckel-Gruber syndrome, type 1