Conditions / Syndrome
septooptic dysplasia
info · Syndrome
A syndrome characterized by the classical triad of optic nerve hypoplasia, pituitary gland hypoplasia and midline brain defects that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the homeobox gene HESX1 on chromosome 3p14
A syndrome characterized by the classical triad of optic nerve hypoplasia, pituitary gland hypoplasia and midline brain defects that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the homeobox gene HESX1 on chromosome 3p14.
Signs and symptoms
- Global developmental delay
- Absent septum pellucidum
- Anterior pituitary hypoplasia
- Short stature
- Agenesis of corpus callosum
- Polydactyly
- Optic nerve hypoplasia
- Short finger
- Decreased response to growth hormone stimulation test
- Diabetes insipidus
Medications that may treat it
Also known as: De Morsier syndrome; SOD; septo-optic dysplasia