The main features of this condition are evident in skeleton and face Facial features: * Triangular face * Small frontotemporal diameter * Small deep set eyes * Bulbous nose with high nasal bridge * Small upper lip * Micrognathia Skeletal features: * Thoracic kyphoscoliosis * Sloping shoulders * Pectus excavatum * Elbow contractures * Clinodactyly * Pes planus * Delayed bone age Other associated conditions: * Lipodystrophy * Simian creases All three patients developed liver cancer (hepatoma) in the teens.
Ruijs-Aalfs syndrome
Helsmoortel-Van der Aa syndrome
Fryns-Aftimos syndrome
Van der Woude syndrome
Van Den Bosch syndrome
Cortes Lacassie syndrome
Vogt–Koyanagi–Harada disease
Van Gogh syndrome