Conditions / Syndrome
Culler-Jones syndrome
info · Syndrome
A syndrome that is characterized by hypopituitarism (mainly growth hormone deficiency), and/or postaxial polydactyly and has_material_basis_in autosomal dominant heterozygous mutation in the GLI2 gene on chromosome 2q14. Midline facial defects and developmenta
A syndrome that is characterized by hypopituitarism (mainly growth hormone deficiency), and/or postaxial polydactyly and has_material_basis_in autosomal dominant heterozygous mutation in the GLI2 gene on chromosome 2q14. Midline facial defects and developmental delay can also be seen. The condition shows incomplete penetrance and high variable expressivity.
Signs and symptoms
- Bilateral tonic-clonic seizure
- Hypogonadotropic hypogonadism
- Short stature
- Seizure
- Unilateral cryptorchidism
- Interictal epileptiform activity
- Postnatal growth retardation
- Recurrent urinary tract infections
- Delayed skeletal maturation
- Global developmental delay