Conditions / Syndrome
Meckel syndrome 2
info · Syndrome · ICD-10: Q61.9
A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TMEM216 gene on chromosome 11q12.2.
Signs and symptoms
- Renal cyst
- Bile duct proliferation
- Polydactyly
- Encephalocele
- Meningocele
- Cleft palate
- Postaxial hand polydactyly
- Bowing of the long bones
- Intrauterine growth retardation
- Anencephaly
Also known as: MKS2; Meckel-Gruber syndrome, type 2