Conditions / Syndrome
Meckel syndrome 6
info · Syndrome · ICD-10: Q61.9
A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the CC2D2A gene on chromosome 4p15.32.
Signs and symptoms
- Pulmonary hypoplasia
- Talipes equinovarus
- Cystic liver disease
- Hepatic fibrosis
- Occipital encephalocele
- Renal cyst
- Hepatic cysts
- Postaxial foot polydactyly
- Postaxial hand polydactyly
- Cleft palate
Also known as: MKS6; Meckel-Gruber syndrome, type 6