Conditions / Syndrome
Meckel syndrome 3
info · Syndrome · ICD-10: Q61.9
A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TMEM67 gene on chromosome 8q22.1.
Signs and symptoms
- Multicystic kidney dysplasia
- Malformation of the hepatic ductal plate
- Occipital encephalocele
- Postaxial hand polydactyly
- Hepatic fibrosis
- Polydactyly
- Bile duct proliferation
- Hepatomegaly
- Cleft palate
- Hydrocephalus
Also known as: MKS3; Meckel-Gruber syndrome, type 3