Conditions / Syndrome
Meckel syndrome 5
info · Syndrome · ICD-10: Q61.9
A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the RPGRIP1L gene on chromosome 16q12.2.
Signs and symptoms
- Cleft palate
- Anencephaly
- Postaxial hand polydactyly
- Bile duct proliferation
- Occipital encephalocele
- Renal cyst
- Microphthalmia
- Cleft upper lip
- Bowing of the long bones
- Postaxial foot polydactyly
Also known as: MKS5; Meckel-Gruber syndrome, type 5