Conditions / Syndrome
Meckel syndrome 8
info · Syndrome · ICD-10: Q61.9
A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TCTN2 gene on chromosome 12q24.31.
Signs and symptoms
- Encephalocele
- Polydactyly
- Occipital encephalocele
- Abdominal distention
- Polycystic kidney dysplasia
- Cleft palate
- Microcephaly
- Talipes equinovarus
- Ambiguous genitalia
- Short nose
Also known as: MKS8; Meckel-Gruber syndrome, type 8