Conditions / Syndrome
Ruijs-Aalfs syndrome
info · Syndrome
A syndrome characterized by genomic instability and susceptibility toward early onset hepatocellular carcinoma that has_material_basis_in homozygous or compound heterozygous mutation in SPRTN on 1q42.2.
Signs and symptoms
- Decreased body weight
- Single transverse palmar crease
- Lipodystrophy
- Hepatocellular carcinoma
- Skeletal muscle atrophy
- Delayed skeletal maturation
- Micrognathia
- Triangular face
- Bulbous nose
- Clinodactyly
Also known as: progeroid features-hepatocellular carcinoma predisposition syndrome