Conditions / Syndrome
Alkuraya-Kucinskas syndrome
info · Syndrome
A syndrome characterized by arthrogryposis, cerebral parenchymal underdevelopment, clubfoot, and global developmental delay with severe cases being incompatible with life that has_material_basis_in homozygous or compound heterozygous mutation in the KIAA1109 g
A syndrome characterized by arthrogryposis, cerebral parenchymal underdevelopment, clubfoot, and global developmental delay with severe cases being incompatible with life that has_material_basis_in homozygous or compound heterozygous mutation in the KIAA1109 gene on chromosome 4q27.
Signs and symptoms
- Hydrocephalus
- Pleural effusion
- Dandy-Walker malformation
- Talipes equinovarus
- Micrognathia
- Small scrotum
- Strabismus
- Short nose
- Generalized hypotonia
- Kinked brainstem
Also known as: ALKKUCS