Septo-Optic Dysplasia, etc.

My daughter has been diagnosed with Septo-Optic Dysplasia, with hypothalamic dysfunction. She also has hydrocephalus (mild) with ventriculomegaly and a seizure disorder.

She has narrow palpebral fissures and craniofacial distortion (with head circumference in the 25th percentile). Is there any evidence that suggests these things may be connected to any of her diagnoses? She is also globally developmentally delayed. There is no "concrete" reason for her delays. Any thoughts on what might be responsible for this?

Thank you

[Lisa Kessler, MS, CGC]

It sounds like your daughter has a lot going on, and I hope that this response is helpful.   As you know, Septo-Optic Dysplasia (SOD) is condition that includes any combination of optic nerve hypoplasia (underdevelopment or incomplete development), pituitary gland hypoplasia, and abnormalities in the midline of the brain.  There have been some case reports published that describe children with a condition called “SOD plus”.  These children were diagnosed with SOD and also had other problems such as global developmental delay.   Genetic testing is clinically available for SOD.  Your daughter may benefit from seeing a pediatric clinical geneticist to help sort out if her other symptoms are related to SOD.  You can find a geneticist through the American College of Medical Genetics.    

[Babydoll03]

A related discussion, Septo Optic Dysplasia was started.